ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915984694
Gene: GALT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3622
ClinVar RCV Id:
RCV000003806
RCV000727661
RCV001271243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245261.1:p.Glu94Lys
CA340108
NM_001258332.2:c.280G>A