ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828073165
Gene: LARGE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349880.1:p.Glu71Lys
CA172466
NM_001362951.2:c.211G>A