Canonical Allele Identifier: PA1139668078
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 875543
ClinVar RCV Id: RCV001099488 RCV002556015
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Val269Phe
CA1144208
NM_000298.5:c.805G>T