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: PA097747

Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 2106

ClinVar RCV Id: RCV000002187 RCV001777129 RCV002272007

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056150.1:p.Glu251Gly	CA115346 NM_015335.5:c.752A>G