Canonical Allele Identifier: PA302954
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196728
ClinVar RCV Id: RCV000177591 RCV000539010 RCV001535402 RCV002269960 RCV002314633 RCV002500499
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Gly899Ser
CA302952
NM_001278074.1:c.2695G>A