ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106381
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013864
RCV000119487
RCV001824568
RCV001851836
ClinVar Variation:
12992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Thr4637Ala
CA024078
NM_000540.3:c.13909A>G