Canonical Allele Identifier: PA645452475
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379245
ClinVar RCV Id: RCV000430536 RCV001126857 RCV001126859 RCV001126858 RCV002521553
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Val1447Ile
CA8644177
NM_000088.4:c.4339G>A