ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645378264
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373430
ClinVar RCV Id:
RCV000413896
RCV001299282
RCV002227157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Glu408Gln
CA16043073
NM_000527.5:c.1222G>C