ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113154
Gene: C1GALT1C1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39573
ClinVar RCV Id:
RCV000032773
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001011551.1:p.Ser193Pro
CA130368
NM_001011551.3:c.577T>C