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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:
CA1616586140
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24646680_24646682delinsCTG , CM000668.2:g.24646680_24646682delinsCTG
GRCh38
NC_000006.11:g.24646908_24646910delinsCTG , CM000668.1:g.24646908_24646910delinsCTG
GRCh37
NC_000006.10:g.24754887_24754889delinsCTG
NCBI36
NG_016206.1:g.4474_4476delinsCAG
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