ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825178732
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002716048
ClinVar Variation:
1963640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Arg350Gly
CA404082860
NM_000527.5:c.1048C>G