ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250484
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3733
ClinVar RCV Id:
RCV000003931
RCV001201377
RCV003457636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys222_Asp227dup
CA250482
NM_000527.5:c.664_681dup