Allele Registry

Canonical Allele Identifier: PA645452388

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000496033

ClinVar Variation:

431028

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1148Asp	CA400198947 NM_000088.4:c.3443G>A