ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645379709
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000417315
RCV001764352
RCV002411283
RCV003226290
ClinVar Variation:
375824
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Val618Gly
CA16602338
NM_000527.5:c.1853T>G