ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306980
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182870
RCV000415707
RCV000777782
RCV001093762
RCV002321724
RCV003227703
ClinVar Variation:
201381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ala1365Val
CA009452
NM_001035.3:c.4094C>T