ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA235477
Gene: LDLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000518.1:p.Asp748Asn
NM_000527.5:c.2242G>A