ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916067963
Gene: LARGE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_598397.1:p.Arg448Gln
CA16621117
NM_133642.5:c.1343G>A