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: PA658655277

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441196

ClinVar RCV Id: RCV000509206

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys289Tyr	CA404080788 NM_000527.5:c.866G>A