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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:
PA2573213676
Gene: MFSD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1446647
ClinVar RCV Id:
RCV001987763
RCV002361286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358521.1:p.Tyr412His
CA3077264
NM_001371592.1:c.1234T>C