ClinGen Allele Registry
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Canonical Allele Identifier:
PA105577
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000056232
RCV000119518
RCV001854163
RCV003996488
RCV004555852
ClinVar Variation:
65985
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg4825Cys
CA024150
NM_000540.3:c.14473C>T