ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499241777
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1056528
ClinVar RCV:
RCV001377230
ClinVar Variation:
1066271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Cys270Trp
CA404080270
NM_001195798.2:c.810C>G