Canonical Allele Identifier: PA2499301966
Gene: HPS5 HGNC NCBI
ClinVar RCV:
RCV001551065
ClinVar Variation:
1190372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_852608.1:p.Leu624Pro
CA379491639
NM_181507.2:c.1871T>C