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: PA645376609

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251321

ClinVar RCV Id: RCV000238584

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys204Ser	CA10585011 NM_000527.5:c.611G>C CA404077803 NM_000527.5:c.610T>A