Canonical Allele Identifier: PA1139672941
Gene: RYR1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gln4249His
CA405671065
NM_000540.3:c.12747G>C
CA405671066
NM_000540.3:c.12747G>T