ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826214835
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
362703
ClinVar RCV:
RCV000417345
ClinVar Variation:
375811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Phe234Ser
CA16602326
NM_001195800.2:c.701T>C