Allele Registry

Canonical Allele Identifier: PA257904

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018872

RCV000490682

ClinVar Variation:

17331

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly839Ser	CA257902 NM_000088.4:c.2515G>A