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: PA645499688

Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426414

ClinVar RCV Id: RCV000489882

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001836.3:p.Gly1254Arg	CA388662032 NM_001845.6:c.3760G>C CA388662034 NM_001845.6:c.3760G>A