Canonical Allele Identifier: PA3087083290
Gene: RYR1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Lys4372Asn
CA405673536
NM_000540.3:c.13116G>C
CA405673538
NM_000540.3:c.13116G>T