ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825420760
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3071850
ClinVar RCV Id:
RCV004016344
RCV004371960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ala2549Val
CA069910
NM_001042723.2:c.7646C>T