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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:
CA2323620344
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.12890579_12890581delinsCAA , CM000681.2:g.12890579_12890581delinsCAA
GRCh38
NC_000019.9:g.13001393_13001395delinsCAA , CM000681.1:g.13001393_13001395delinsCAA
GRCh37
NC_000019.8:g.12862393_12862395delinsCAA
NCBI36
NG_009292.1:g.4420_4422delinsCAA
NG_013087.1:g.1623_1625delinsTTG
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