ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826212741
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3692
ClinVar RCV Id:
RCV000003880
RCV000791377
RCV000826215
RCV000985772
RCV002371758
RCV002051612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Asp263Asn
CA023792
NM_001195799.2:c.787G>A