Allele Registry

Canonical Allele Identifier: PA645452424

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

426230

ClinVar RCV:

RCV000497837

RCV002527161

ClinVar Variation:

432942

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Val1289Leu	CA8644327 NM_000088.4:c.3865G>C