ClinGen Allele Registry
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Canonical Allele Identifier:
PA658827514
Gene: COL4A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000082.2:p.Ser1108_Gly1110del
CA2147178
NM_000091.5:c.3321_3329del