ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645376661
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251337
ClinVar RCV Id:
RCV000238558
RCV000587367
RCV001345581
RCV004020952
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.His211Leu
CA10585025
NM_000527.5:c.632A>T