ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825287848
Gene: SS18
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007560.1:p.Gly279Glu
CA402079906
NM_001007559.3:c.836G>A