Allele Registry

Canonical Allele Identifier: PA645452413

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000490710

ClinVar Variation:

425622

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Asp1219Asn	CA291542879 NM_000088.4:c.3655G>A