Allele Registry

Canonical Allele Identifier: PA127135

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

32354

ClinVar RCV:

RCV000018856

ClinVar Variation:

17315

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly593Cys	CA127133 NM_000088.4:c.1777G>T