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: PA2741950685

Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 2954596

ClinVar RCV Id: RCV003815795

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056150.1:p.Ser424Tyr	CA386898187 NM_015335.5:c.1271C>A