ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3086623953
Gene: LDLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Glu723Lys
CA404094832
NM_000527.5:c.2167G>A