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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA393089437
Gene: HCN4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr15:g.73616231T>C (hg19)
chr15:g.73323890T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73323890T>C , CM000677.2:g.73323890T>C
GRCh38
NC_000015.9:g.73616231T>C , CM000677.1:g.73616231T>C
GRCh37
NC_000015.8:g.71403284T>C
NCBI36
NG_009063.1:g.50375A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.2203A>G
MANE Select
ENSP00000261917.3:p.Asn735Asp
ENST00000261917.3:c.2203A>G
ENSP00000261917.3:p.Asn735Asp
NM_005477.2:c.2203A>G
NP_005468.1:p.Asn735Asp
XM_011521148.1:c.985A>G
XP_011519450.1:p.Asn329Asp
XM_011521148.2:c.985A>G
XP_011519450.1:p.Asn329Asp
NM_005477.3:c.2203A>G
MANE Select
NP_005468.1:p.Asn735Asp
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