ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826254428
Gene: GALC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000625867
ClinVar Variation:
522714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188331.1:p.Ile167Thr
CA390751369
NM_001201402.2:c.500T>C