ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826406370
Gene: RIT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000207338
RCV000226825
RCV001731491
ClinVar Variation:
183406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243749.1:p.Phe46Ile
CA353868
NM_001256820.2:c.136T>A