Canonical Allele Identifier: PA3086624271
Gene: RYR1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr4832Ser
CA405687395
NM_000540.3:c.14494A>T
CA405687400
NM_000540.3:c.14495C>G