ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499259252
Gene: COL4A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001837.2:p.Thr1384_Gly1389del
CA2499221947
NM_001846.4:c.4151_4168del