ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA231985
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000119619
RCV001588946
ClinVar Variation:
133132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Gln155Lys
CA024451
NM_000540.3:c.463C>A