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Canonical Allele Identifier: Get Identifier
Gene: HPS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016871659.1:p.Leu548Pro
CA341630
XM_017016170.1:c.1643T>C
CA2825001735
XM_017016170.1:c.1641_1643delinsCCC