Canonical Allele Identifier: PA645451847
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425639
ClinVar RCV Id: RCV000490740 RCV000520145 RCV002279257 RCV002489188 RCV004551605
ClinVar Variation Id: 1451481
ClinVar RCV Id: RCV002007244
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly257Arg
CA291547584
NM_000088.4:c.769G>A
CA400223887
NM_000088.4:c.769G>C