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: PA2826213172

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375813

ClinVar RCV Id: RCV000417344

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Asn398Tyr	CA16602328 NM_001195799.2:c.1192A>T