Canonical Allele Identifier: PA1139694502
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 979097
ClinVar RCV Id: RCV001258142
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000081.2:p.Pro415His
CA349851437
NM_000090.4:c.1244C>A