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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:
PA2828492330
Gene: MFSD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206150
ClinVar RCV Id:
RCV000188168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358519.1:p.Asn103Asp
CA315962
NM_001371590.1:c.307A>G