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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:
PA2826476141
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372441
ClinVar RCV Id:
RCV000413794
RCV000984424
RCV001388984
RCV002463362
RCV004529567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245394.1:p.Arg208Trp
CA5933833
NM_001258465.3:c.622C>T