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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:
CA356706560
Gene: CHRNA9
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr4:g.40356331C>T (hg19)
chr4:g.40354314C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.40354314C>T , CM000666.2:g.40354314C>T
GRCh38
NC_000004.11:g.40356331C>T , CM000666.1:g.40356331C>T
GRCh37
NC_000004.10:g.40051088C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000310169.3:c.1234C>T
MANE Select
ENSP00000312663.2:p.Gln412Ter
ENST00000310169.2:c.1234C>T
ENSP00000312663.2:p.Gln412Ter
NM_017581.3:c.1234C>T
NP_060051.2:p.Gln412Ter
NM_017581.4:c.1234C>T
MANE Select
NP_060051.2:p.Gln412Ter
Search 100 bp 5'
Search 100 bp 3'