ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825566414
Gene: SEPTIN9
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006222
ClinVar Variation:
5864
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106965.1:p.Ser104Phe
CA340470
NM_001113493.2:c.311C>T