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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:
CA1320071139
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.199180317_199180320delinsTCTG , CM000664.2:g.199180317_199180320delinsTCTG
GRCh38
NC_000002.11:g.200045040_200045043delinsTCTG , CM000664.1:g.200045040_200045043delinsTCTG
GRCh37
NC_000002.10:g.199753285_199753288delinsTCTG
NCBI36
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