ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826703566
Gene: COL4A6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274688.1:p.Arg1247His
CA10487319
NM_001287759.2:c.3740G>A