ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573073610
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1325794
ClinVar RCV Id:
RCV001785331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362247.1:p.Asp2317del
CA913184751
NM_001375318.1:c.6949_6951del