Canonical Allele Identifier: PA658832103
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212100
ClinVar RCV Id: RCV000195228 RCV000267639 RCV000391459 RCV000307765 RCV000655553 RCV000662096 RCV000662097 RCV000662098 RCV000996866 RCV002500594
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg885His
CA063661
NM_001042723.2:c.2654G>A