Canonical Allele Identifier: PA658804467
Gene: COL4A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 522489
ClinVar RCV Id: RCV000625631
ClinVar Variation Id: 594208

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000083.3:p.Phe1650Leu
CA2144013
NM_000092.5:c.4950C>G
CA351140115
NM_000092.5:c.4950C>A
CA351140119
NM_000092.5:c.4948T>C