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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:
PA100495
Gene: TYR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3782
ClinVar RCV Id:
RCV000003985
RCV000085916
RCV003238721
RCV003460415
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000363.1:p.Arg422Gln
CA116440
NM_000372.5:c.1265G>A