Canonical Allele Identifier: PA645452138
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324106
ClinVar RCV Id: RCV000283301 RCV000343018 RCV000392300 RCV001345234 RCV001533845 RCV002278493
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Pro915Ser
CA8644692
NM_000088.4:c.2743C>T