Canonical Allele Identifier: PA3076745110
Gene: HPS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000186.2:p.Trp583Cys
CA378043667
NM_000195.5:c.1749G>C
CA378043668
NM_000195.5:c.1749G>T