Canonical Allele Identifier: PA2573170018
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1493691
ClinVar RCV Id: RCV001986672 RCV003130668
ClinVar Variation Id: 3070323
ClinVar RCV Id: RCV004011841
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met4881Ile
CA061439
NM_000540.3:c.14643G>T
CA405688158
NM_000540.3:c.14643G>C
CA405688159
NM_000540.3:c.14643G>A