ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307005
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182894
RCV002516915
ClinVar Variation:
201404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Val4760Ile
CA008199
NM_001035.3:c.14278G>A