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: PA2826216180

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431515

ClinVar RCV Id: RCV000497207 RCV000775605 RCV003323571

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Thr164Pro	CA029979 NM_001195803.2:c.490A>C