ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825304800
Gene: C1GALT1C1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001011551.1:p.Ala143Val
CA10505969
NM_001011551.3:c.428C>T