ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA133011
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000036809
RCV001175861
RCV002513447
RCV003996307
ClinVar Variation:
43842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ser333Phe
CA011384
NM_001035.3:c.998C>T