ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825566240
Gene: SEPTIN9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106964.1:p.Arg191Trp
CA8793673
NM_001113492.2:c.571C>T