Canonical Allele Identifier: PA2826254534
Gene: GALC HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188331.1:p.Leu283Phe
CA7297196
NM_001201402.2:c.849A>C
CA390747627
NM_001201402.2:c.849A>T