ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826211549
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251204
ClinVar RCV Id:
RCV000237376
RCV000775037
RCV003148692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Cys134Phe
CA10584903
NM_001195798.2:c.401G>T