ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580105948
Gene: COL4A4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000083.3:p.Pro206Leu
CA2145553
NM_000092.5:c.617C>T