Canonical Allele Identifier: PA2573193485
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1406466
ClinVar RCV Id: RCV001935436
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Asn1770Lys
CA375460815
NM_001278074.1:c.5310C>A
CA375460816
NM_001278074.1:c.5310C>G