Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA1139696492

Gene: COL4A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 974464

ClinVar RCV Id: RCV001281224 RCV001301864

ClinVar Variation Id: 2439370

ClinVar RCV Id: RCV003143639

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000082.2:p.Gly759Arg	CA350849079 NM_000091.5:c.2275G>A CA350849081 NM_000091.5:c.2275G>C