ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825304784
Gene: C1GALT1C1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3026056
ClinVar RCV Id:
RCV003884127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001011551.1:p.Lys65Glu
CA414209997
NM_001011551.3:c.193A>G