ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375340
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251018
ClinVar RCV Id:
RCV000237876
RCV001230907
RCV002436069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys34Gly
CA10584752
NM_000527.5:c.100T>G