ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825607748
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_001120926.1:p.Leu239Pro
CA4191357
NM_001127454.2:c.716T>C