ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826216592
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
369853
ClinVar RCV Id:
RCV000408823
RCV002523840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Tyr292Asp
CA10654850
NM_001195803.2:c.874T>G