ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499249892
Gene: RSPH3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001307552
ClinVar Variation:
1009986
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333347.1:p.Ala396delinsGlyPro
CA1676373905
NM_001346418.1:c.1186_1187insGTC