Allele Registry

Canonical Allele Identifier: PA257859

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018842

ClinVar Variation:

17301

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1166Cys	CA257857 NM_000088.4:c.3496G>T