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Canonical Allele Identifier: Get Identifier
Gene: HPS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000477926.1:p.Gln256His
CA378051859
ENST00000613394.4:c.768G>C
CA378051860
ENST00000613394.4:c.768G>T