Canonical Allele Identifier: PA1139727957
Gene: RSPH3 HGNC NCBI
ClinVar RCV:
RCV000697056
ClinVar Variation:
574980
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001333347.1:p.Ser433Leu
CA366278713
NM_001346418.1:c.1298C>T