ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999891
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000417351
ClinVar Variation:
375812
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Tyr419Cys
CA16602327
NM_001195798.2:c.1256A>G