Allele Registry

Canonical Allele Identifier: PA645452422

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

413974

ClinVar RCV:

RCV000490692

RCV000490761

RCV002272256

ClinVar Variation:

425626

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1272Val	CA400194038 NM_000088.4:c.3815G>T