Allele Registry

Canonical Allele Identifier: PA2573161397

Gene: COL1A1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Met1000Ile	CA8644619 NM_000088.4:c.3000G>C CA400203910 NM_000088.4:c.3000G>A CA400203913 NM_000088.4:c.3000G>T