ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105307
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000119673
RCV000554523
RCV001787972
RCV001787973
RCV001787974
RCV001787975
RCV001787976
RCV001787977
RCV001787978
RCV001824615
RCV002281943
ClinVar Variation:
133174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg2336His
CA024662
NM_000540.3:c.7007G>A