ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804829
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544446
ClinVar RCV Id:
RCV000655589
RCV003330873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Leu4357Met
CA405673327
NM_000540.3:c.13069C>A