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: PA658806125

Gene: MED12 HGNC NCBI

Linked Data

ClinVar Variation Id: 519565

ClinVar RCV Id: RCV000626252 RCV002314182 RCV003762835

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005111.2:p.Gln2072_Gln2076del	CA10444884 NM_005120.3:c.6177_6191del CA913184317 NM_005120.3:c.6153_6167del CA2436358781 NM_005120.3:c.6192_6206del CA2579639507 NM_005120.3:c.6183_6197del CA2694028526 NM_005120.3:c.6162_6176del