ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100897
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3694
ClinVar RCV Id:
RCV000003882
RCV000775062
RCV000786355
RCV002381239
RCV004017225
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Val429Met
CA023443
NM_000527.5:c.1285G>A