ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA232039
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133165
ClinVar RCV Id:
RCV000119663
RCV001047827
RCV001588955
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Val2210Phe
CA024625
NM_000540.3:c.6628G>T