Allele Registry

Canonical Allele Identifier: PA645452291

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000490696

RCV000596247

RCV001037391

RCV001330770

RCV004551602

ClinVar Variation:

425618

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1076Ser	CA291543018 NM_000088.4:c.3226G>A