Canonical Allele Identifier: PA2826216476
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251689
ClinVar RCV Id: RCV000237675
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gln257_Asp259del
CA10585329
NM_001195803.2:c.770_778del