ClinGen Allele Registry
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Canonical Allele Identifier:
PA915961501
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167614
ClinVar RCV Id:
RCV000815630
RCV000721610
RCV001580430
RCV003514313
RCV002478448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Thr214Met
CA024581
NM_001042723.2:c.641C>T