ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741872965
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
530408
ClinVar RCV Id:
RCV000636260
RCV003333092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362247.1:p.Ala870Ser
CA375058064
NM_001375318.1:c.2608G>T