ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998959
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251437
ClinVar RCV Id:
RCV000237699
RCV000844739
RCV001190236
RCV002392740
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Gln254Pro
CA10585117
NM_001195798.2:c.761A>C