ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825566078
Gene: SEPTIN9
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000359029
RCV002229873
ClinVar Variation:
325554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106963.1:p.Asp348Asn
CA8793637
NM_001113491.2:c.1042G>A