ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573169855
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1395905
ClinVar RCV Id:
RCV001887299
RCV003365521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ser4409Gly
CA405674465
NM_000540.3:c.13225A>G