ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916001945
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251104
ClinVar RCV Id:
RCV000237969
RCV002429167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Cys89Trp
CA10584819
NM_001195803.2:c.267C>G