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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:
CA1939221982
Gene: EMX2OS
HGNC
NCBI
Linked Data
dbSNP Id:
rs1846310440
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.117524741del , CM000672.2:g.117524741del
GRCh38
NC_000010.10:g.119284252del , CM000672.1:g.119284252del
GRCh37
NC_000010.9:g.119274242del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_002791.2:n.574+19565del
NR_144378.1:n.493+17356del
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Search 100 bp 3'