Canonical Allele Identifier: PA1139668082
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 874618
ClinVar RCV Id: RCV001097709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Arg322Ser
CA1144147
NM_000298.5:c.966G>T
CA342753594
NM_000298.5:c.966G>C