ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA214224
Gene: RYR2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001026.2:p.Gly4772Ser
NM_001035.3:c.14314G>A