ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825566894
Gene: SEPTIN9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1682627
ClinVar RCV Id:
RCV002239925
RCV004045124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106967.2:p.Arg39Leu
CA401207976
NM_001113495.2:c.116G>T