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: PA2826214721

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251662

ClinVar RCV Id: RCV000237564 RCV001192511

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Gln198Arg	CA032068 NM_001195800.2:c.593A>G