Allele Registry

Canonical Allele Identifier: PA260280

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000755939

RCV000989947

RCV002399338

RCV003323365

ClinVar Variation:

35902

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Arg528His	CA260278 NM_000088.4:c.1583G>A