ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645376496
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251309
ClinVar RCV Id:
RCV000238173
RCV001068108
RCV002356330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys197Phe
CA044039
NM_000527.5:c.590G>T