ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999202
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161281
ClinVar RCV Id:
RCV000238462
RCV000657894
RCV000791388
RCV000781501
RCV002051674
RCV002444607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Arg303Trp
CA023787
NM_001195798.2:c.907C>T