Canonical Allele Identifier: PA2830395387
Gene: HPS5 HGNC NCBI
ClinVar RCV:
RCV003557582
ClinVar Variation:
2735561
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_852609.1:p.Leu510Arg
CA342551
NM_181508.1:c.1529T>G