Canonical Allele Identifier: PA645466659
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 292815
ClinVar RCV Id: RCV000371504 RCV002487303 RCV003137903
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Ile131del
CA10608268
NM_000298.5:c.391_393del