Canonical Allele Identifier: PA645374818
Gene: SPTAN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123910.1:p.Ser2071Arg
CA5265661
NM_001130438.3:c.6211A>C
CA5265662
NM_001130438.3:c.6213C>G
CA375087086
NM_001130438.3:c.6213C>A