ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658706176
Gene: COL4A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001836.3:p.Gly948Ser
CA388666800
NM_001845.6:c.2842G>A