Canonical Allele Identifier: PA915962218
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290117
ClinVar RCV Id: RCV000273611 RCV000331017 RCV000313458 RCV000370505 RCV000655552 RCV000657029
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asn1346Lys
CA065501
NM_001042723.2:c.4038C>A
CA065506
NM_001042723.2:c.4038C>G