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: PA645406225

Gene: MBD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 420374

ClinVar RCV Id: RCV000549902 RCV001255043 RCV001704616 RCV002367633

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060798.2:p.Val412Ile	CA1899990 NM_018328.5:c.1234G>A