ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825180214
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
810851
ClinVar RCV Id:
RCV001000106
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asp579Val
CA404089695
NM_000527.5:c.1736A>T