Canonical Allele Identifier: PA2580337052
Gene: PDE6H HGNC NCBI
ClinVar RCV:
RCV003021045
ClinVar Variation:
2093864
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006196.1:p.His75Arg
CA384025503
NM_006205.3:c.224A>G