Canonical Allele Identifier: PA1139695051
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 924793
ClinVar RCV Id: RCV001186379

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000081.2:p.Lys833Asn
CA349842805
NM_000090.4:c.2499A>C
CA349842806
NM_000090.4:c.2499A>T