ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829417339
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2119138
ClinVar RCV Id:
RCV003054513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.His1806Tyr
CA375076256
NM_003127.4:c.5416C>T