Canonical Allele Identifier: PA220414
Gene: GALC HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Trp288Arg
CA220413
NM_000153.4:c.862T>C
CA390747819
NM_000153.4:c.862T>A