ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962571
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000655593
RCV001125554
RCV001125555
RCV002275123
RCV002507140
ClinVar Variation:
544448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ala2421Ser
CA069413
NM_001042723.2:c.7261G>T