ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573219447
Gene: COL4A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1656774
ClinVar RCV Id:
RCV002164152
RCV002500362
RCV004047058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001836.3:p.Arg1238His
CA7047169
NM_001845.6:c.3713G>A