Allele Registry

Canonical Allele Identifier: PA2573161341

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV001914424

ClinVar Variation:

1420638

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly530Cys	CA291545243 NM_000088.4:c.1588G>T