ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100798
Gene: SEPTIN9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001106963.1:p.Arg106Trp
NM_001113491.2:c.316C>T