Canonical Allele Identifier: PA645452261
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420060
ClinVar RCV Id: RCV000485287 RCV000794277 RCV001270299 RCV002323823
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Arg1066Cys
CA8644546
NM_000088.4:c.3196C>T