ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580164527
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1975487
ClinVar RCV Id:
RCV002755705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asp433Ala
CA404085020
NM_001195798.2:c.1298A>C