ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829417724
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35483
ClinVar RCV Id:
RCV000029155
RCV000657889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.Gln2197del
CA129923
NM_003127.4:c.6590_6592del