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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:
PA2828492830
Gene: MFSD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1004
ClinVar RCV Id:
RCV000001059
RCV000188166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358520.1:p.Tyr121Cys
CA251663
NM_001371591.1:c.362A>G