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: PA645379733

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252086

ClinVar RCV Id: RCV000237185

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Trp620Arg	CA10585657 NM_000527.5:c.1858T>C CA404092386 NM_000527.5:c.1858T>A