Canonical Allele Identifier: PA2826214746
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251675
ClinVar RCV Id: RCV000237308
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Gly206Ser
CA10585314
NM_001195800.2:c.616_617delinsTC
CA404083532
NM_001195800.2:c.616G>A