ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680953
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000557129
RCV000996873
RCV002483515
RCV003999500
ClinVar Variation:
478228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ala1370Thr
CA065561
NM_000540.3:c.4108G>A