ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573081067
Gene: COL4A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001837.2:p.Leu495Ile
CA388736400
NM_001846.4:c.1483C>A