ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104057
Gene: LBR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002287.2:p.Arg372Cys
NM_002296.4:c.1114C>T