Canonical Allele Identifier: PA1139684914
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 879945
ClinVar RCV Id: RCV001107867

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000485.3:p.Arg1260Cys
CA5677807
NM_000494.4:c.3778C>T