Allele Registry

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.

Canonical Allele Identifier: PA2829999143

Gene: SMN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 7962

ClinVar RCV Id: RCV000008426 RCV000487481 RCV001824116 RCV004525848

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_075014.1:p.Gly255Arg	CA119187 NM_022876.2:c.763G>C CA360087005 NM_022876.2:c.763G>A