ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825419571
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3071436
ClinVar RCV Id:
RCV004015930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Asn535Ser
CA405689804
NM_001042723.2:c.1604A>G