Allele Registry

Canonical Allele Identifier: PA257799

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000018819

RCV002228041

ClinVar Variation:

17278

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly379Ala	CA257797 NM_000089.4:c.1136G>C