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: PA2580113360

Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2246598

ClinVar RCV Id: RCV002743230 RCV003108176

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Gln88His	CA7893990 NM_000303.3:c.264A>C CA394696079 NM_000303.3:c.264A>T