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: PA2828443538

Gene: MFSD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 533375

ClinVar RCV Id: RCV000640470 RCV001835030 RCV002386060

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358524.1:p.Tyr347Cys	CA3077253 NM_001371595.1:c.1040A>G