ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573179151
Gene: SEPTIN9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1682580
ClinVar RCV Id:
RCV002237552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106963.1:p.Ser74Pro
CA401205737
NM_001113491.2:c.220T>C