Canonical Allele Identifier: PA2826877842
Gene: COL4A1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001290039.1:p.Arg315Cys
CA16042820
NM_001303110.2:c.943C>T