This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: GALC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.[Gln216_Gln219del;Val221_Ile224delinsSerPro;Asp227Glu;Leu229_Glu231delinsHis;Ile233_Phe244del]
CA2580088851
NM_000153.4:c.646_647del