ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645421542
Gene: COL4A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
334754
ClinVar RCV Id:
RCV000374898
RCV000735745
RCV001243798
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000082.2:p.Pro74Leu
CA2145944
NM_000091.5:c.221C>T