Canonical Allele Identifier: PA1139686992
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 871328
ClinVar RCV Id: RCV001091220
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Gly1838Ser
CA375462178
NM_001278074.1:c.5512G>A