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: PA242170

Gene: PLEC HGNC NCBI

Linked Data

ClinVar Variation Id: 195656

ClinVar RCV Id: RCV000712729 RCV001089444 RCV004539634

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_958781.1:p.Val829Met	CA242168 NM_201379.3:c.2485G>A