Canonical Allele Identifier: PA645429928
Gene: GALC HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000144.2:p.Gly613Ter
NM_000153.4:c.[1836dup;1838G>A]

NM_000153.4:c.1837G>T