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: PA2825179777

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3071618

ClinVar RCV Id: RCV004016112

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ser493Cys	CA404086311 NM_000527.5:c.1478C>G