ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573180201
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1480072
ClinVar RCV Id:
RCV002021967
RCV002484914
RCV004011047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Thr2543Ile
CA405671362
NM_001042723.2:c.7628C>T