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: PA2825180471

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2907538

ClinVar RCV Id: RCV003740886

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ile623Phe	CA404092463 NM_000527.5:c.1867A>T