ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000068
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
36456
ClinVar RCV Id:
RCV000030128
RCV001050334
RCV003234927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Gly461Ser
CA023472
NM_001195798.2:c.1381G>A