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: PA916001916

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251102

ClinVar RCV Id: RCV000237985

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Cys89Arg	CA10584817 NM_001195803.2:c.265T>C