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: PA162100

Gene: SETD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135235

ClinVar RCV Id: RCV000122047 RCV001518643 RCV001610430

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_054878.5:p.Met1080Ile	CA162098 NM_014159.7:c.3240G>A CA352523233 NM_014159.7:c.3240G>T CA352523235 NM_014159.7:c.3240G>C