Canonical Allele Identifier: PA2825060986
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 523328
ClinVar RCV Id: RCV000626600
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Gly203Val
CA375443454
NM_000093.5:c.608G>T