Canonical Allele Identifier: PA2741814314
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2689765
ClinVar RCV Id: RCV003488265

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Phe535Leu
CA342750285
NM_000298.5:c.1605T>G
CA342750287
NM_000298.5:c.1605T>A
CA342750302
NM_000298.5:c.1603T>C