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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
5
g.137567007G>A
CA15409051
SPOCK1
n.182+31191C>T
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.137567007G>T
CA1585477485
SPOCK1
n.182+31191C>A
dbSNP
Number of alleles fetched
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