ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826214122
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375840
ClinVar RCV Id:
RCV000417325
RCV001248957
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Val786Phe
CA16602353
NM_001195799.2:c.2356G>T