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: PA2580112992

Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2434889

ClinVar RCV Id: RCV003134942

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000289.1:p.Gln239Pro	CA342754779 NM_000298.5:c.716A>C