Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2830405495

Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1513

ClinVar RCV Id: RCV000001577 RCV000724015 RCV000762857 RCV000991156 RCV002251854

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_870986.1:p.Arg455Trp	CA215080 NM_181871.4:c.1363C>T