ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100290
Gene: LDLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000518.1:p.Cys173Trp
NM_000527.5:c.519C>G