Allele Registry

Canonical Allele Identifier: PA257907

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018873

RCV003517128

ClinVar Variation:

17332

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Leu1464Pro	CA257905 NM_000088.4:c.4391T>C