ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306934
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201332
ClinVar RCV Id:
RCV000182818
RCV001179066
RCV003638638
RCV003996784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Lys4143Gln
CA007522
NM_001035.3:c.12427A>C