ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829417588
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.Ser2066Arg
CA5265661
NM_003127.4:c.6196A>C
CA5265662
NM_003127.4:c.6198C>G
CA375087086
NM_003127.4:c.6198C>A