ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826215904
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
18743
ClinVar RCV:
RCV000003893
RCV000162025
RCV002426485
RCV002512729
ClinVar Variation:
3704
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Tyr660Cys
CA023679
NM_001195800.2:c.1979A>G