ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658818283
Gene: GSDME
HGNC
NCBI
Linked Data
ClinVar Variation Id:
517175
ClinVar RCV Id:
RCV000611135
RCV000897752
RCV001160131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004394.1:p.Leu403Pro
CA4191357
NM_004403.3:c.1208T>C