ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915975838
Gene: SEPTIN9
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001106965.1:p.Arg99Trp
NM_001113493.2:c.295C>T