ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826204507
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182461.1:p.Ser2046Arg
CA5265661
NM_001195532.2:c.6136A>C
CA5265662
NM_001195532.2:c.6138C>G
CA375087086
NM_001195532.2:c.6138C>A