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: PA916001057

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252219

ClinVar RCV Id: RCV000237906 RCV000589820 RCV000826172 RCV001284644 RCV002418071

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Pro699Leu	CA038525 NM_001195798.2:c.2096C>T