ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA143944
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55831
ClinVar RCV Id:
RCV000049252
RCV000119774
RCV001588881
RCV003591651
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Lys33Glu
CA025005
NM_000540.3:c.97A>G