Allele Registry

Canonical Allele Identifier: PA257886

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018864

RCV003228896

ClinVar Variation:

17323

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly980Val	CA257884 NM_000088.4:c.2939G>T