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Canonical Allele Identifier: Get Identifier
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514223.1:p.[Asn617_Thr623delinsThrCysArgArgTrpPro;Gln625_Asp626del;Phe629_Gln631delinsIleAla;Val633Ser;Leu635_His637delinsArgPro;Glu639_Phe640del;Gln642_Leu646del]
CA2655894654
ENST00000473782.2:c.1850del