ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825204866
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3070283
ClinVar RCV Id:
RCV004011801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Leu4769Phe
CA061104
NM_000540.3:c.14305C>T