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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:
PA2828441375
Gene: MFSD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
533375
ClinVar RCV Id:
RCV000640470
RCV001835030
RCV002386060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358522.1:p.Tyr403Cys
CA3077253
NM_001371593.1:c.1208A>G