ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057318508
Gene: RYR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Asp4949Asn
CA405692504
NM_001042723.2:c.14845G>A