Canonical Allele Identifier: PA2826212506
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1386964
ClinVar RCV Id: RCV001905910
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser185Asn
CA2573155716
NM_001195799.2:c.553_554delinsAA