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: PA2826214490

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251505

ClinVar RCV Id: RCV000238042 RCV003126648

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Asn129His	CA10585178 NM_001195800.2:c.385A>C