Allele Registry

Canonical Allele Identifier: PA658668699

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

468206

ClinVar RCV:

RCV000559468

ClinVar Variation:

456769

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1136Ala	CA400199220 NM_000088.4:c.3407G>C