Canonical Allele Identifier: PA645451963
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265433
ClinVar RCV Id: RCV000255844 RCV000293333 RCV000722158 RCV002278251
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly560Ser
CA10588664
NM_000088.4:c.1678G>A