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: PA2826034484

Gene: PFKM HGNC NCBI

Linked Data

ClinVar Variation Id: 255760

ClinVar RCV Id: RCV000245226 RCV000322166 RCV000675434

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001160159.1:p.Arg100Gln	CA6536961 NM_001166687.2:c.299G>A