ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100194
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000211676
RCV000844733
RCV002229194
RCV002426991
RCV003417768
ClinVar Variation:
226313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asp90Gly
CA042622
NM_000527.5:c.269A>G