ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139697783
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
924371
ClinVar RCV Id:
RCV001185660
RCV004008547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asn230Asp
CA404079106
NM_001195798.2:c.688A>G