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: PA1139670366

Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 968446

ClinVar RCV Id: RCV001243581

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000519.2:p.Leu811Phe	CA9226039 NM_000528.4:c.2431C>T