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: PA2825180157

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1778448

ClinVar RCV Id: RCV002398797 RCV003418510

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asp569Gly	CA404089612 NM_000527.5:c.1706A>G