Allele Registry

Canonical Allele Identifier: PA257844

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018837

RCV004549376

ClinVar Variation:

17296

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1022Ser	CA257842 NM_000088.4:c.3064G>A