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: PA219067

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68155

ClinVar RCV Id: RCV000058986 RCV001150625

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Gly295Asp	CA219066 NM_000487.5:c.884G>A