ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825201045
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2002502
ClinVar RCV Id:
RCV002820457
RCV004007624
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Thr2585Ala
CA405671940
NM_000540.3:c.7753A>G