ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825422780
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1052409
ClinVar RCV Id:
RCV001360587
RCV001548539
RCV004005272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Pro4705Leu
CA060854
NM_001042723.2:c.14114C>T