ClinGen Allele Registry
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Canonical Allele Identifier:
PA2741827967
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2912303
ClinVar RCV Id:
RCV003757069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ala2637Ser
CA405674200
NM_001042723.2:c.7909G>T