Canonical Allele Identifier: PA2830405246
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 292815
ClinVar RCV Id: RCV000371504 RCV002487303 RCV003137903
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_870986.1:p.Ile100del
CA10608268
NM_181871.4:c.298_300del