Allele Registry

Canonical Allele Identifier: PA257841

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018836

ClinVar Variation:

17295

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1010Ser	CA257839 NM_000088.4:c.3028G>A