ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825304804
Gene: C1GALT1C1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001011551.1:p.Thr147Met
CA10505965
NM_001011551.3:c.440C>T