ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658827592
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
548075
ClinVar RCV Id:
RCV000660713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Ile473Ser
CA404085893
NM_000527.5:c.1418T>G