Canonical Allele Identifier: PA645451922
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 388459
ClinVar RCV Id: RCV000422156 RCV000631495 RCV000765371
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Pro459Thr
CA8645265
NM_000088.4:c.1375C>A