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: PA645378425

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375813

ClinVar RCV Id: RCV000417344

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asn439Tyr	CA16602328 NM_000527.5:c.1315A>T