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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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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.64192858A>C
CA413311181
AMER1
c.429T>G (p.Cys143Trp)
dbSNP
X
g.64192858A>G
CA517041695
AMER1
c.429T>C (p.Cys143=)
dbSNP
X
g.64192858A>T
CA128810
AMER1
c.429T>A (p.Cys143Ter)
ClinVar
dbSNP
Number of alleles fetched
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