ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916003881
Gene: GALC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193054
ClinVar RCV Id:
RCV000173074
RCV000498062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188330.1:p.Gly57Ser
CA274898
NM_001201401.2:c.169G>A