Canonical Allele Identifier: PA2573062214
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1330491
ClinVar RCV Id: RCV001810820
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Leu254Phe
CA342754543
NM_000298.5:c.762G>T
CA342754544
NM_000298.5:c.762G>C