ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826217268
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252241
ClinVar RCV Id:
RCV000238548
RCV003581644
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Glu538Lys
CA10585792
NM_001195803.2:c.1612G>A