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: PA2825338836

Gene: ASL HGNC NCBI

Linked Data

ClinVar Variation Id: 554299

ClinVar RCV Id: RCV000669909

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001020117.1:p.Arg271Gln	CA4277165 NM_001024946.2:c.812G>A