Canonical Allele Identifier: PA2828113517
Gene: SPTAN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350694.1:p.Ser2051Arg
CA5265661
NM_001363765.2:c.6151A>C
CA5265662
NM_001363765.2:c.6153C>G
CA375087086
NM_001363765.2:c.6153C>A