Canonical Allele Identifier: PA2826213544
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252005
ClinVar RCV Id: RCV000238291

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val537dup
CA10585589
NM_001195799.2:c.1612_1613insTCG