Canonical Allele Identifier: PA2825201284
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330358
ClinVar RCV Id: RCV001803451 RCV003130549 RCV003591895
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val2627Leu
CA308113474
NM_000540.3:c.7879G>C
CA405673868
NM_000540.3:c.7879G>T