ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580147002
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2002502
ClinVar RCV Id:
RCV002820457
RCV004007624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Thr2585Ala
CA405671940
NM_001042723.2:c.7753A>G