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Canonical Allele Identifier: Get Identifier
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000384185.3:p.[Asn612_Thr618delinsThrCysArgArgTrpPro;Gln620_Asp621del;Phe624_Gln626delinsIleAla;Val628Ser;Leu630_His632delinsArgPro;Glu634_Phe635del;Gln637_Leu641del]
CA2655894654
ENST00000402105.7:c.1835del