Canonical Allele Identifier: PA1139691702
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 842026
ClinVar RCV Id: RCV001044363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Leu1388Pro
CA400191803
NM_000088.4:c.4163T>C