Canonical Allele Identifier: PA2580107263
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 2147564
ClinVar RCV Id: RCV003060961
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Pro487Leu
CA264685596
NM_000153.4:c.1460C>T