ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645391034
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002282148
RCV002488998
RCV003153575
ClinVar Variation:
404179
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ser4155Thr
CA16610026
NM_001035.3:c.12463T>A