ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826211491
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237873
ClinVar RCV Id:
RCV001273281
RCV002478838
RCV002450673
RCV002494626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asp118Asn
CA10583773
NM_001195798.2:c.352G>A