Canonical Allele Identifier: PA2826216631
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3231947
ClinVar RCV Id: RCV004518662
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp306_Thr307del
CA2825002700
NM_001195803.2:c.918_923del