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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
18
g.13885143C>A
CA116125
MC2R
c.376G>T (p.Ala126Ser)
ClinVar
dbSNP
18
g.13885143C>T
CA8902500
MC2R
c.376G>A (p.Ala126Thr)
dbSNP
ExAC
gnomAD v2
Number of alleles fetched
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