ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA121176
Gene: C1GALT1C1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10793
ClinVar RCV Id:
RCV000011540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689905.1:p.Glu152Lys
CA121175
NM_152692.5:c.454G>A