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: PA916000603

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 548080

ClinVar RCV Id: RCV000660718

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Leu582Val	CA404089709 NM_001195798.2:c.1744C>G