ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916001573
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183087
ClinVar RCV Id:
RCV000161956
RCV000237389
RCV001193789
RCV003372631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Gly96Ser
CA023703
NM_001195799.2:c.286G>A