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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:
PA2826939966
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3472
ClinVar RCV Id:
RCV000003637
RCV000984384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001297087.1:p.Gly78Val
CA116227
NM_001310158.2:c.233G>T