Canonical Allele Identifier: PA2825202375
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072348
ClinVar RCV Id: RCV004012378
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr3305Ile
CA405692716
NM_000540.3:c.9914C>T