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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:
CA2582222205
Gene: FAM83E
HGNC
NCBI
Linked Data
gnomAD v3:
19-48615118-C-CT
gnomAD v4:
19-48615118-C-CT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.48615121dup , CM000681.2:g.48615121dup
GRCh38
NC_000019.9:g.49118378dup , CM000681.1:g.49118378dup
GRCh37
NC_000019.8:g.53810190dup
NCBI36
NG_029867.1:g.831dup
Transcript Alleles
HGVS
Amino-acid change
XM_024451561.1:c.-1566dup
XP_024307329.1:n.-1566dup
Search 100 bp 5'
Search 100 bp 3'