Canonical Allele Identifier: PA891851915
Gene: RYR1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val2102Leu
CA068028
NM_000540.3:c.6304G>C
CA068032
NM_000540.3:c.6304G>T