ClinGen Allele Registry
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Canonical Allele Identifier:
PA915953561
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002535945
ClinVar Variation:
664195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Val4190Glu
CA345413647
NM_001035.3:c.12569T>A