Allele Registry

Canonical Allele Identifier: PA645452276

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000414748

ClinVar Variation:

373106

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1070Ser	CA16043047 NM_000088.4:c.3208G>A