Allele Registry

Canonical Allele Identifier: PA645452414

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000526752

RCV001712452

RCV002455947

RCV003488631

RCV004551617

ClinVar Variation:

426558

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Arg1227His	CA8644376 NM_000088.4:c.3680G>A