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: PA2826217160

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2835670

ClinVar RCV Id: RCV003741993

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Asp495His	CA404092430 NM_001195803.2:c.1483G>C