ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916008553
Gene: RNF213
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243000.2:p.Asp2057Asn
CA8820446
NM_001256071.3:c.6169G>A