Canonical Allele Identifier: PA273012
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161975
ClinVar RCV Id: RCV002247545
ClinVar Variation Id: 379845
ClinVar RCV Id: RCV000437521 RCV000623415 RCV002283479 RCV002502498
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001836.3:p.Gly773Arg
CA273011
NM_001845.6:c.2317G>C
CA16606390
NM_001845.6:c.2317G>A