ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825421377
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013854
RCV000119413
ClinVar Variation:
12983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Pro3522Ser
CA023845
NM_001042723.2:c.10564C>T