ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826253872
Gene: GALC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1053266
ClinVar RCV Id:
RCV001361588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188330.1:p.Ile227Met
CA390749252
NM_001201401.2:c.681A>G