ClinGen Allele Registry
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Canonical Allele Identifier:
PA891865295
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
590454
ClinVar RCV Id:
RCV000721375
RCV001580414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Gln4837Glu
CA405687465
NM_000540.3:c.14509C>G