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: PA645380066

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252144

ClinVar RCV Id: RCV000237382 RCV003581636

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Gln660Arg	CA10585706 NM_000527.5:c.1979A>G