Allele Registry

Canonical Allele Identifier: PA127148

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018876

ClinVar Variation:

17335

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Trp1312Cys	CA127146 NM_000088.4:c.3936G>T CA400193382 NM_000088.4:c.3936G>C