Allele Registry

Canonical Allele Identifier: PA2499227951

Gene: COL1A1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Asn387Lys	CA291546801 NM_000088.4:c.1161C>A CA400219296 NM_000088.4:c.1161C>G