Canonical Allele Identifier: PA1139673497
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 857436
ClinVar RCV Id: RCV001063105 RCV003442188
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu4903Asp
CA061537
NM_000540.3:c.14709G>C
CA405690422
NM_000540.3:c.14709G>T