ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA177760
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000151775
RCV000577938
RCV000577997
RCV000578054
RCV000620731
RCV000766733
RCV000777878
RCV000852418
RCV003998229
ClinVar Variation:
165128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Glu4431Lys
CA007871
NM_001035.3:c.13291G>A