ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825566468
Gene: SEPTIN9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
325546
ClinVar RCV Id:
RCV003153559
RCV000406675
RCV000857024
RCV000857025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106965.1:p.Ala173Thr
CA8793236
NM_001113493.2:c.517G>A