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: PA2825518421

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 2856599

ClinVar RCV Id: RCV003608337

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078894.2:p.Gly303Val	CA412174706 NM_001085425.3:c.908G>T