Canonical Allele Identifier: PA1139763767
Gene: C1GALT1C1 HGNC NCBI
ClinVar RCV:
RCV001202954
ClinVar Variation:
934543
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689905.1:p.Lys221Arg
CA10505943
NM_152692.5:c.662A>G