ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742016419
Gene: C1GALT1C1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689905.1:p.Thr147Met
CA10505965
NM_152692.5:c.440C>T