Canonical Allele Identifier: PA259124
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 24773
ClinVar RCV Id: RCV001090396
ClinVar Variation Id: 870368
ClinVar RCV Id: RCV001089928

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000486.1:p.Met1601Ile
CA259123
NM_000495.4:c.4803G>A
CA414132626
NM_000495.4:c.4803G>C
CA414132627
NM_000495.4:c.4803G>T