Allele Registry

Canonical Allele Identifier: PA260391

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000029614

ClinVar Variation:

35958

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly283del	CA260389 NM_000089.4:c.848_850del