Canonical Allele Identifier: PA130369
Gene: C1GALT1C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39573
ClinVar RCV Id: RCV000032773

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689905.1:p.Ser193Pro
CA130368
NM_152692.5:c.577T>C