ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825420556
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3074309
ClinVar RCV Id:
RCV004012851
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ala2200Pro
CA405665786
NM_001042723.2:c.6598G>C