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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:
CA1201830603
Gene: FCER1A
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.159301910_159301911delinsTA , CM000663.2:g.159301910_159301911delinsTA
GRCh38
NC_000001.10:g.159271700_159271701delinsTA , CM000663.1:g.159271700_159271701delinsTA
GRCh37
NC_000001.9:g.157538324_157538325delinsTA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368115.5:c.-59-396_-59-395delinsTA
ENSP00000357097.1:n.-59-396_-59-395delinsTA
NM_002001.3:c.-59-396_-59-395delinsTA
NP_001992.1:n.-59-396_-59-395delinsTA
NM_002001.4:c.-59-396_-59-395delinsTA
NP_001992.1:n.-59-396_-59-395delinsTA
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