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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
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Canonical Allele Identifier:
CA1752372838
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.150815016_150815019delinsCCCC , CM000669.2:g.150815016_150815019delinsCCCC
GRCh38
NC_000007.13:g.150512104_150512107delinsCCCC , CM000669.1:g.150512104_150512107delinsCCCC
GRCh37
NC_000007.12:g.150143037_150143040delinsCCCC
NCBI36
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