ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830253537
Gene: RIPPLY1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2312634
ClinVar RCV Id:
RCV004160612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612391.1:p.Pro103Leu
CA10483567
NM_138382.3:c.308C>T