ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645499664
Gene: COL4A1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001836.3:p.Gly1166Val
NM_001845.6:c.3497G>T