Canonical Allele Identifier: PA2826217103
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252043
ClinVar RCV Id: RCV000237562

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Lys476Asn
CA10585624
NM_001195803.2:c.1428G>C
CA404089823
NM_001195803.2:c.1428G>T