ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830253542
Gene: RIPPLY1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3154704
ClinVar RCV Id:
RCV004454052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612391.1:p.Glu138Lys
CA10483550
NM_138382.3:c.412G>A