ClinGen Allele Registry
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Canonical Allele Identifier:
PA645390934
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000489632
RCV000772023
RCV002523284
RCV004000633
ClinVar Variation:
404238
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Thr4072Met
CA16610095
NM_001035.3:c.12215C>T