ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828693443
Gene: RNF216
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1398969
ClinVar RCV Id:
RCV001915325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364085.1:p.Arg694His
CA4147861
NM_001377156.1:c.2081G>A