Canonical Allele Identifier: PA206410
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 211059
ClinVar RCV Id: RCV000193133 RCV000395974 RCV002261004 RCV003955152
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Arg220Gln
CA206409
NM_000153.4:c.659G>A