ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250486
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3734
ClinVar RCV Id:
RCV000003932
RCV001523922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Gly844Asp
CA023681
NM_000527.5:c.2531G>A