ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658801815
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
518758
ClinVar RCV Id:
RCV000772659
RCV000621019
RCV001101827
RCV001101828
RCV004002654
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ser4407Asn
CA085311
NM_001035.3:c.13220G>A