Canonical Allele Identifier: PA2825063324
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2721783
ClinVar RCV Id: RCV003595329
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Gly1832Arg
CA375462115
NM_000093.5:c.5494G>A
CA375462117
NM_000093.5:c.5494G>C