ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826216427
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251662
ClinVar RCV Id:
RCV000237564
RCV001192511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Gln239Arg
CA032068
NM_001195803.2:c.716A>G