ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827064724
Gene: SEPTIN10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3160048
ClinVar RCV Id:
RCV004452950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308428.1:p.Asn139Tyr
CA1826129
NM_001321499.2:c.415A>T