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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:
CA1008276014
Gene: FCER1A
HGNC
NCBI
Linked Data
gnomAD v3:
1-159302306-C-CTTTTTT
gnomAD v4:
1-159302306-C-CTTTTTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.159302306_159302307insTTTTTT , CM000663.2:g.159302306_159302307insTTTTTT
GRCh38
NC_000001.10:g.159272096_159272097insTTTTTT , CM000663.1:g.159272096_159272097insTTTTTT
GRCh37
NC_000001.9:g.157538720_157538721insTTTTTT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000368115.5:c.-59_-58insTTTTTT
ENSP00000357097.1:n.-59_-58insTTTTTT
NM_002001.3:c.-59_-58insTTTTTT
NP_001992.1:n.-59_-58insTTTTTT
NM_002001.4:c.-59_-58insTTTTTT
NP_001992.1:n.-59_-58insTTTTTT
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