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: PA2825518957

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68141

ClinVar RCV Id: RCV000058972

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078895.2:p.Gln192His	CA219038 NM_001085426.3:c.576G>C CA412177464 NM_001085426.3:c.576G>T