Canonical Allele Identifier: PA2825061419
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2704812
ClinVar RCV Id: RCV003594986
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Asp418Asn
CA5318691
NM_000093.5:c.1252G>A