Allele Registry

Canonical Allele Identifier: PA1139690999

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV001070529

ClinVar Variation:

863538

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly434Ala	CA400218611 NM_000088.4:c.1301G>C