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: PA2826015709

Gene: PLCE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2007165

ClinVar RCV Id: RCV002842118

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159451.1:p.Thr1469Ala	CA377641996 NM_001165979.2:c.4405A>G