ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3086166999
Gene: LDLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Gly496Ala
CA305300122
NM_000527.5:c.1487G>C