ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826254456
Gene: GALC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
963553
ClinVar RCV Id:
RCV001237593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188331.1:p.Ala199Glu
CA7297279
NM_001201402.2:c.596C>A