ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826211374
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
923296
ClinVar RCV Id:
RCV001183871
RCV002505781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asn80Ser
CA404075595
NM_001195798.2:c.239A>G