Canonical Allele Identifier: PA658804246
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 512651
ClinVar RCV Id: RCV000877735 RCV001125580 RCV001125579 RCV001125581 RCV001697902 RCV002431790 RCV004547731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Ala723Thr
CA8644913
NM_000088.4:c.2167G>A