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: PA2826212695

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_001182728.1:p.Cys248Tyr	CA404080788 NM_001195799.2:c.743G>A