Canonical Allele Identifier: PA2825304816
Gene: C1GALT1C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2204275
ClinVar RCV Id: RCV004069133

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001011551.1:p.Ser199Arg
CA10505950
NM_001011551.3:c.597C>G
CA414208003
NM_001011551.3:c.597C>A
CA414208015
NM_001011551.3:c.595A>C