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: PA2825519896

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 996130

ClinVar RCV Id: RCV001290419

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078897.1:p.Pro108His	CA325531514 NM_001085428.3:c.323C>A