ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825420260
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3072926
ClinVar RCV Id:
RCV004014940
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Tyr1710Phe
CA405653899
NM_001042723.2:c.5129A>T