Canonical Allele Identifier: PA645496920
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423543
ClinVar RCV Id: RCV000479742
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Asp2Glu
CA16618784
NM_001278074.1:c.6C>G
CA375443766
NM_001278074.1:c.6C>A