ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825567069
Gene: SEPTIN9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
889089
ClinVar RCV Id:
RCV001122816
RCV002240654
RCV004032241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106968.1:p.Val52Met
CA8793548
NM_001113496.2:c.154G>A