ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804830
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544420
ClinVar RCV Id:
RCV000655556
RCV000996906
RCV002493065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ala4403Thr
CA308109525
NM_000540.3:c.13207G>A