ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828575261
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
953458
ClinVar RCV Id:
RCV001225755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362241.2:p.Ala2288Ser
CA5265920
NM_001375312.2:c.6862G>T