Canonical Allele Identifier: PA645498358
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420612
ClinVar RCV Id: RCV000485959
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Phe404Leu
CA16618785
NM_001278074.1:c.1210T>C
CA375450743
NM_001278074.1:c.1212C>A
CA375450744
NM_001278074.1:c.1212C>G