ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100798
Gene: SEPTIN9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5863
ClinVar RCV Id:
RCV000006221
RCV000516514
RCV004018574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106963.1:p.Arg106Trp
CA340468
NM_001113491.2:c.316C>T