Canonical Allele Identifier: PA2580525570
Gene: C1GALT1C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2204275
ClinVar RCV Id: RCV004069133

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689905.1:p.Ser199Arg
CA10505950
NM_152692.5:c.597C>G
CA414208003
NM_152692.5:c.597C>A
CA414208015
NM_152692.5:c.595A>C