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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000471601.2:p.[Ala2437_Leu2451delinsThr;Ile2453_Arg2454delinsAsp;Ile2456_Arg2458del;Leu2460_Val2461delinsAsn;Leu2463_Leu2466delinsSerArgGlnGly]
CA069470
ENST00000599547.6:c.7308_7309del