ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3083953373
Gene: GSDMA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_835465.2:p.Arg18Gln
CA8536756
NM_178171.5:c.53G>A