Allele Registry

Canonical Allele Identifier: PA2499228085

Gene: COL3A1 HGNC NCBI

ClinVar RCV:

RCV001548065

RCV001806238

RCV004008927

ClinVar Variation:

1188314

HGVS (amino-acid)	Matching Registered Transcripts
NP_000081.2:p.Val353Ile	CA349850773 NM_000090.4:c.1057G>A