Canonical Allele Identifier: PA2826217456
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2568142
ClinVar RCV Id: RCV003283510
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asn647del
CA2580613053
NM_001195803.2:c.1939_1941del