Canonical Allele Identifier: PA2573165840
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1687598
ClinVar RCV Id: RCV002251280
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Glu315Asp
CA342753739
NM_000298.5:c.945G>T
CA342753741
NM_000298.5:c.945G>C