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: PA2826215629

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3074471

ClinVar RCV Id: RCV004014005

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Asn520Ser	CA404093739 NM_001195800.2:c.1559A>G