Canonical Allele Identifier: PA658804959
Gene: PHKA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 501100
ClinVar RCV Id: RCV000597489 RCV001042605
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000283.1:p.Arg1072del
CA658799597
NM_000292.3:c.3210_3212del