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: PA2826214893

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 689350

ClinVar RCV Id: RCV000850046

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Ser253Gly	CA404084814 NM_001195800.2:c.757A>G