ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139686596
Gene: RNF213
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243000.2:p.Ser4118Phe
CA401409800
NM_001256071.3:c.12353C>T