ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825420276
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3071176
ClinVar RCV Id:
RCV004014678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Val1735Met
CA405654157
NM_001042723.2:c.5203G>A