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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:
CA2339985387
Gene: FAM83E
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.48615152_48615153delinsGC , CM000681.2:g.48615152_48615153delinsGC
GRCh38
NC_000019.9:g.49118409_49118410delinsGC , CM000681.1:g.49118409_49118410delinsGC
GRCh37
NC_000019.8:g.53810221_53810222delinsGC
NCBI36
NG_029867.1:g.862_863delinsGC
Transcript Alleles
HGVS
Amino-acid change
XM_024451561.1:c.-1600_-1599delinsGC
XP_024307329.1:n.-1600_-1599delinsGC
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