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: PA2828621213

Gene: PROC HGNC NCBI

Linked Data

ClinVar Variation Id: 225448

ClinVar RCV Id: RCV000288890 RCV003479063

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362534.1:p.Lys227del	CA1859388 NM_001375605.1:c.679_681del CA348401163 NM_001375605.1:c.676A>T CA348401182 NM_001375605.1:c.679A>T