Canonical Allele Identifier: PA2828501133
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Glu487Asp
CA374938004
NM_001374313.2:c.1461G>C
CA374938005
NM_001374313.2:c.1461G>T