ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825607418
Gene: GSDME
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000037974
RCV000279194
RCV002228127
ClinVar Variation:
44843
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120925.1:p.Pro142Thr
CA135162
NM_001127453.2:c.424C>A