ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826214126
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
228207
ClinVar RCV:
RCV000211561
ClinVar Variation:
226395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Tyr787Ser
CA10576335
NM_001195799.2:c.2360A>C