Allele Registry

Canonical Allele Identifier: PA645452415

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

271303

ClinVar RCV:

RCV000319514

RCV001127365

RCV001127366

RCV001127367

RCV001296479

RCV002348009

ClinVar Variation:

287066

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Ile1245Phe	CA8644370 NM_000088.4:c.3733A>T