ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105923
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93279
ClinVar RCV Id:
RCV000056058
RCV000079156
RCV000119647
RCV000209979
RCV000395150
RCV000299979
RCV001510857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Gly2060Cys
CA024556
NM_000540.3:c.6178G>T