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: PA115992

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3081

ClinVar RCV Id: RCV000003227 RCV000078933 RCV000723522

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Arg372Trp	CA115991 NM_000487.5:c.1114C>T