ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826254216
Gene: GALC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2689106
ClinVar RCV Id:
RCV003487856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188330.1:p.Ala589Val
CA390745562
NM_001201401.2:c.1766C>T