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: PA2825403873

Gene: MLPH HGNC NCBI

Linked Data

ClinVar Variation Id: 191157

ClinVar RCV Id: RCV000171341 RCV001283806

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035932.1:p.Arg35Gln	CA236136 NM_001042467.3:c.104G>A