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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:
CA2339985380
Gene: FAM83E
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.48615135G= , CM000681.2:g.48615135G=
GRCh38
NC_000019.9:g.49118392G= , CM000681.1:g.49118392G=
GRCh37
NC_000019.8:g.53810204G=
NCBI36
NG_029867.1:g.845G=
Transcript Alleles
HGVS
Amino-acid change
XM_024451561.1:c.-1582C=
XP_024307329.1:n.-1582C=
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