Canonical Allele Identifier: PA2825607569
Gene: GSDME HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120925.1:p.Ala400Val
CA135155
NM_001127453.2:c.1199C>T
CA915944897
NM_001127453.2:c.1199_1200delinsTG