Canonical Allele Identifier: PA645452237
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324103
ClinVar RCV Id: RCV000274658 RCV000329876 RCV000389062 RCV000828389 RCV000765370 RCV001084727
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Val1057Ile
CA8644548
NM_000088.4:c.3169G>A