Allele Registry

Canonical Allele Identifier: PA257874

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018855

ClinVar Variation:

17314

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly815Val	CA257872 NM_000088.4:c.2444G>T