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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:
CA1504947285
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.154594322_154594324delinsTTA , CM000666.2:g.154594322_154594324delinsTTA
GRCh38
NC_000004.11:g.155515474_155515476delinsTTA , CM000666.1:g.155515474_155515476delinsTTA
GRCh37
NC_000004.10:g.155734924_155734926delinsTTA
NCBI36
NG_008832.1:g.1422_1424delinsTAA , LRG_557:g.1422_1424delinsTAA
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