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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:
CA1881450364
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.130890315_130890318delinsCATT , CM000671.2:g.130890315_130890318delinsCATT
GRCh38
NC_000009.11:g.133765702_133765705delinsCATT , CM000671.1:g.133765702_133765705delinsCATT
GRCh37
NC_000009.10:g.132755523_132755526delinsCATT
NCBI36
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Search 100 bp 3'