Canonical Allele Identifier: PA916001422
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251149
ClinVar RCV Id: RCV000238283
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Pro65_Asp71del
CA10584850
NM_001195799.2:c.193_213del