ClinGen Allele Registry
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Canonical Allele Identifier:
PA915975848
Gene: SEPTIN9
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000365616
RCV000890177
RCV001795945
RCV003940292
RCV004021716
ClinVar Variation:
325548
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106966.1:p.Arg73Gln
CA8793269
NM_001113494.1:c.218G>A