Canonical Allele Identifier: PA891861584
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 587646
ClinVar RCV Id: RCV000714910
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Glu403Asp
CA375450722
NM_001278074.1:c.1209G>C
CA375450723
NM_001278074.1:c.1209G>T