ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915962669
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
640616
ClinVar RCV Id:
RCV000793673
RCV004001578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ser2609Leu
CA070356
NM_001042723.2:c.7826C>T