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: PA120956

Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 100057

ClinVar RCV Id: RCV000011087 RCV000079409 RCV000011086 RCV000011088 RCV000179363 RCV000445579 RCV000477810 RCV001250219 RCV000623137 RCV000761429 RCV001265539 RCV002227060 RCV003925095 RCV001528124

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000393.4:p.Ser218Phe	CA120955 NM_000402.4:c.653C>T CA2580573398 NM_000402.4:c.[653C>T;466A>G;292G>A] CA2580573399 NM_000402.4:c.[653C>T;466A>G] CA2580573400 NM_000402.4:c.[653C>T;292G>A] CA2580573401 NM_000402.4:c.[653C>T;233T>C]