Allele Registry

Canonical Allele Identifier: PA658668708

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000550757

RCV001547583

ClinVar Variation:

456776

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Tyr1216Cys	CA400197506 NM_000088.4:c.3647A>G