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: PA115793

Gene: MCFD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2870

ClinVar RCV Id: RCV000003004

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001164978.1:p.Asp129Glu	CA115788 NM_001171507.2:c.387C>G CA346710541 NM_001171507.2:c.387C>A