ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825304820
Gene: C1GALT1C1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
934543
ClinVar RCV Id:
RCV001202954
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001011551.1:p.Lys221Arg
CA10505943
NM_001011551.3:c.662A>G