ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825423107
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
410601
ClinVar RCV:
RCV000479874
RCV000548242
RCV002289631
RCV002489160
ClinVar Variation:
420588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Phe4919del
CA16620842
NM_001042723.2:c.14755_14757del