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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:
CA2527605627
Gene: FAM83E
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.48615125del , CM000681.2:g.48615125del
GRCh38
NC_000019.9:g.49118382del , CM000681.1:g.49118382del
GRCh37
NC_000019.8:g.53810194del
NCBI36
NG_029867.1:g.835del
Transcript Alleles
HGVS
Amino-acid change
XM_024451561.1:c.-1572del
XP_024307329.1:n.-1572del
Search 100 bp 5'
Search 100 bp 3'