ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826216397
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251649
ClinVar RCV Id:
RCV000237189
RCV000775054
RCV001699265
RCV002411084
RCV004017551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Glu230Lys
CA10585290
NM_001195803.2:c.688G>A