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: PA2742005745

Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 3019782

ClinVar RCV Id: RCV003874893

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_620279.1:p.Pro194Arg	CA9043606 NM_138924.3:c.581C>G