ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915961503
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056187
RCV000119652
RCV003996485
ClinVar Variation:
65940
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Gly215Glu
CA024583
NM_001042723.2:c.644G>A