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: PA1139670527

Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 890570

ClinVar RCV Id: RCV001125243

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000519.2:p.Ser932Arg	CA404237722 NM_000528.4:c.2796C>G CA404237723 NM_000528.4:c.2796C>A CA404237734 NM_000528.4:c.2794A>C