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: PA1139697742

Gene: COL4A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 992382

ClinVar RCV Id: RCV001280823 RCV003336370

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000083.3:p.Met1603Thr	CA2144064 NM_000092.5:c.4808T>C