ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645377741
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251538
ClinVar RCV Id:
RCV000238496
RCV002374401
RCV003581611
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys313Gly
CA10585208
NM_000527.5:c.937T>G