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: PA2741841699

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2713547

ClinVar RCV Id: RCV003582481 RCV004369053

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Pro685Arg	CA404093683 NM_001195798.2:c.2054C>G