ClinGen Allele Registry
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Canonical Allele Identifier:
PA915999491
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251639
ClinVar RCV Id:
RCV000237417
RCV000775053
RCV002401934
RCV003477853
RCV004017550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asp354Gly
CA031858
NM_001195798.2:c.1061A>G