ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825204675
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3072198
ClinVar RCV Id:
RCV004012228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ala4643Ser
CA405681169
NM_000540.3:c.13927G>T