Canonical Allele Identifier: PA2826254121
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 551400
ClinVar RCV Id: RCV000666451
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188330.1:p.Phe484Leu
CA390746273
NM_001201401.2:c.1452T>G
CA390746274
NM_001201401.2:c.1452T>A
CA390746279
NM_001201401.2:c.1450T>C