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Canonical Allele Identifier: Get Identifier
Gene: HPS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514137.1:p.Trp463Cys
CA378043667
ENST00000699112.1:c.1389G>C
CA378043668
ENST00000699112.1:c.1389G>T