Canonical Allele Identifier: PA2741810212
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2981415
ClinVar RCV Id: RCV003832557
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Leu480Val
CA400217676
NM_000088.4:c.1438C>G