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: PA2826211451

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251131

ClinVar RCV Id: RCV000238210

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Cys104Trp	CA10584840 NM_001195798.2:c.312T>G