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: PA2825189281

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 2294337

ClinVar RCV Id: RCV002859956

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Cys495Gly	CA412166975 NM_000487.5:c.1483T>G