ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422218
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1496825
ClinVar RCV Id:
RCV002028606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Gly4287_Ala4288dup
CA2573156318
NM_001042723.2:c.12859_12864dup