Canonical Allele Identifier: PA2825060506
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423543
ClinVar RCV Id: RCV000479742
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Asp2Glu
CA16618784
NM_000093.5:c.6C>G
CA375443766
NM_000093.5:c.6C>A