ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826216205
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2682003
ClinVar RCV Id:
RCV003477295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Arg173Thr
CA404080998
NM_001195803.2:c.518G>C