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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828444833
Gene: MFSD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1002
ClinVar RCV Id:
RCV000001057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358525.1:p.Gly429Asp
CA251660
NM_001371596.2:c.1286G>A