ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826254122
Gene: GALC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1484436
ClinVar RCV Id:
RCV002005792
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188330.1:p.Ala485Val
CA390746268
NM_001201401.2:c.1454C>T