ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825178340
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
652560
ClinVar RCV Id:
RCV000808135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys302Gly
CA404081021
NM_000527.5:c.904T>G