Allele Registry

Canonical Allele Identifier: PA257889

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018865

RCV000548768

RCV003327362

ClinVar Variation:

17324

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly530Ser	CA257887 NM_000088.4:c.1588G>A