ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139687090
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
923913
ClinVar RCV Id:
RCV001184940
RCV003153937
RCV004008497
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ala157Ser
CA086710
NM_001035.3:c.469G>T