ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139686592
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
923514
ClinVar RCV Id:
RCV001184282
RCV002320411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Asp95Asn
CA404076369
NM_001195799.2:c.283G>A