Canonical Allele Identifier: PA2830069941
Gene: RSPH3 HGNC NCBI
ClinVar RCV:
RCV000697056
ClinVar Variation:
574980
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_114130.4:p.Ser387Leu
CA366278713
NM_031924.8:c.1160C>T