ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826254132
Gene: GALC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188330.1:p.Glu502Lys
CA7296979
NM_001201401.2:c.1504G>A