ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825195644
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1061463
ClinVar RCV Id:
RCV001371047
RCV004006827
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Asn532Ser
CA062179
NM_000540.3:c.1595A>G