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: PA347858

Gene: MMAA HGNC NCBI

Linked Data

ClinVar Variation Id: 218975

ClinVar RCV Id: RCV000203317

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_758454.1:p.Gly188Arg	CA347857 NM_172250.3:c.562G>C CA358355248 NM_172250.3:c.562G>A