ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825566043
Gene: SEPTIN9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157523
ClinVar RCV Id:
RCV000144865
RCV003546477
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106963.1:p.Arg289His
CA270926
NM_001113491.2:c.866G>A