Canonical Allele Identifier: PA1139686914
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 846013
ClinVar RCV Id: RCV002240200
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Arg1732Gln
CA5320666
NM_001278074.1:c.5195G>A