Canonical Allele Identifier: PA2829680138
Gene: SPTBN2 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008877.2:p.Ser2318Leu
CA6127673
NM_006946.4:c.6953C>T