Canonical Allele Identifier: PA1139694285
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 228249
ClinVar RCV Id: RCV000222891 RCV001589122
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000081.2:p.Gly252Cys
CA10576585
NM_000090.4:c.754G>T