Allele Registry

Canonical Allele Identifier: PA658668718

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000532278

RCV000839516

RCV003159740

ClinVar Variation:

456779

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Asn1283Lys	CA8644328 NM_000088.4:c.3849C>A CA400193867 NM_000088.4:c.3849C>G