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: PA2573060945

Gene: COL4A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1342001

ClinVar RCV Id: RCV001837591

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000082.2:p.Gly1083Arg	CA350857364 NM_000091.5:c.3247G>A CA350857369 NM_000091.5:c.3247G>C