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: PA645380203

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252192

ClinVar RCV Id: RCV000237554 RCV001057854

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ala684Thr	CA038311 NM_000527.5:c.2050G>A