ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741843083
Gene: GALC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188330.1:p.Gly59Cys
CA265469438
NM_001201401.2:c.175G>T