Canonical Allele Identifier: PA916001740
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251033
ClinVar RCV Id: RCV000237855
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp47_Gly48del
CA023466
NM_001195803.2:c.139_144del