ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826216572
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251745
ClinVar RCV Id:
RCV000238498
RCV001377885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Met285Thr
CA10585369
NM_001195803.2:c.854T>C