Canonical Allele Identifier: PA2830526605
Gene: RNF216 HGNC NCBI
ClinVar RCV:
RCV000985218
ClinVar Variation:
800990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996999.1:p.Val831Glu
CA366730973
NM_207116.3:c.2492T>A