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: PA2573177950

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 1411564

ClinVar RCV Id: RCV001920712

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Pro194Arg	CA412177449 NM_001085427.3:c.581C>G