Allele Registry

Canonical Allele Identifier: PA3057493610

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018845

RCV005089275

ClinVar Variation:

17304

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1195Cys	CA291542886 NM_000088.4:c.3583G>T