Canonical Allele Identifier: PA2826216750
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251838
ClinVar RCV Id: RCV000237250 RCV000780376 RCV001177032 RCV003329271
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp350Asn
CA034365
NM_001195803.2:c.1048G>A