ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962260
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000148819
RCV000501380
RCV000520385
RCV000534955
RCV000855482
RCV001198313
RCV003998172
RCV004017422
ClinVar Variation:
161372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg1469Trp
CA024441
NM_001042723.2:c.4405C>T