ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422751
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000119497
RCV001449984
RCV003591681
RCV003997314
ClinVar Variation:
133057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Phe4679Ser
CA024101
NM_001042723.2:c.14036T>C