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: PA2573060953

Gene: COL4A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1310107

ClinVar RCV Id: RCV001757175 RCV002477956

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000082.2:p.Glu1084Asp	CA2147165 NM_000091.5:c.3252A>T CA350857404 NM_000091.5:c.3252A>C