Canonical Allele Identifier: PA645452476
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324095
ClinVar RCV Id: RCV000313055 RCV000338677 RCV000407503 RCV000798385 RCV001590959
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Val1458Ile
CA8644169
NM_000088.4:c.4372G>A