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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:
PA2825788895
Gene: SLC39A8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218897
ClinVar RCV Id:
RCV000203248
RCV000733882
RCV003226248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128619.1:p.Gly204Cys
CA249426
NM_001135147.1:c.610G>T