This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PKLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Phe513Leu
CA342750896
NM_000298.5:c.1539C>G
CA342750903
NM_000298.5:c.1539C>A
CA342750919
NM_000298.5:c.1537T>C