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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:
CA408239248
Gene: JAG1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr20:g.10633141G>C (hg19)
chr20:g.10652493G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.10652493G>C , CM000682.2:g.10652493G>C
GRCh38
NC_000020.10:g.10633141G>C , CM000682.1:g.10633141G>C
GRCh37
NC_000020.9:g.10581141G>C
NCBI36
NG_007496.1:g.26554C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000254958.10:c.861C>G
MANE Select
ENSP00000254958.4:p.Asn287Lys
ENST00000617965.2:n.230C>G
ENST00000254958.9:c.861C>G
ENSP00000254958.4:p.Asn287Lys
ENST00000423891.6:n.727C>G
ENST00000617965.1:n.230C>G
NM_000214.2:c.861C>G
NP_000205.1:p.Asn287Lys
NM_000214.3:c.861C>G
MANE Select
NP_000205.1:p.Asn287Lys
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