ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826213129
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001450031
RCV001508840
RCV002377745
RCV002557526
ClinVar Variation:
1120245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Leu385Arg
CA404084869
NM_001195799.2:c.1154T>G