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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:
CA1202650824
Gene: FCER1G
HGNC
NCBI
Linked Data
dbSNP Id:
rs1666110332
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.161219051del , CM000663.2:g.161219051del
GRCh38
NC_000001.10:g.161188841del , CM000663.1:g.161188841del
GRCh37
NC_000001.9:g.159455465del
NCBI36
NG_029043.1:g.8755del
Transcript Alleles
HGVS
Amino-acid change
ENST00000289902.2:c.*108del
MANE Select
ENSP00000289902.1:n.*108del
ENST00000289902.1:c.*108del
ENSP00000289902.1:n.*108del
ENST00000367992.7:c.198+328del
ENSP00000356971.3:n.198+328del
ENST00000490414.1:n.365del
NM_004106.1:c.*108del
NP_004097.1:n.*108del
NM_004106.2:c.*108del
MANE Select
NP_004097.1:n.*108del
Search 100 bp 5'
Search 100 bp 3'