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: PA123884

Gene: MBL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14351

ClinVar RCV Id: RCV000015425 RCV000455297 RCV001642227

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000233.1:p.Gly57Glu	CA123881 NM_000242.3:c.170G>A