ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422286
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425185
ClinVar RCV Id:
RCV000487577
RCV002527005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ala4334Pro
CA16621737
NM_001042723.2:c.13000G>C