ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306757
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201148
ClinVar RCV Id:
RCV000182605
RCV000785928
RCV001852321
RCV003996724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Val1101Met
CA024393
NM_000540.3:c.3301G>A