Canonical Allele Identifier: PA2828497703
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361236.1:p.Glu473Asp
CA374938004
NM_001374307.2:c.1419G>C
CA374938005
NM_001374307.2:c.1419G>T