ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962599
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000119709
RCV000601471
RCV000655594
RCV001257496
RCV001788014
RCV001788015
RCV001788016
RCV001788017
RCV001788018
RCV001788019
RCV001788020
ClinVar Variation:
133202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg2454Cys
CA024778
NM_001042723.2:c.7360C>T