Canonical Allele Identifier: PA645452086
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324108
ClinVar RCV Id: RCV000268773 RCV000315437 RCV000363370 RCV000438177 RCV001087908 RCV002278494 RCV002446584 RCV004549711
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Pro823Ala
CA8644787
NM_000088.4:c.2467C>G