Canonical Allele Identifier: PA2825422463
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 287319
ClinVar RCV Id: RCV000296266 RCV000344212 RCV000400884 RCV000388448 RCV000549654 RCV000721315
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Met4452Leu
CA10605744
NM_001042723.2:c.13354A>T
CA405675285
NM_001042723.2:c.13354A>C