ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828575039
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2502048
ClinVar RCV Id:
RCV003228467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362241.2:p.Lys1870Glu
CA375077315
NM_001375312.2:c.5608A>G