Allele Registry

Canonical Allele Identifier: PA257871

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018854

RCV001811189

ClinVar Variation:

17313

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1181Ser	CA257869 NM_000088.4:c.3541G>A