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: PA2825199929

Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 934057

ClinVar RCV Id: RCV001202390 RCV001849482

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000486.1:p.Gly1241Asp	CA413848929 NM_000495.4:c.3722G>A