ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827064808
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_001308429.1:p.Asn283Tyr
CA1826129
NM_001321500.2:c.847A>T