Canonical Allele Identifier: PA2828113352
Gene: SPTAN1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350694.1:p.Arg1829Trp
CA318780
NM_001363765.2:c.5485C>T