Canonical Allele Identifier: PA658826331
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_000144.2:p.Phe507Leu
CA390746273
NM_000153.4:c.1521T>G
CA390746274
NM_000153.4:c.1521T>A
CA390746279
NM_000153.4:c.1519T>C