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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:
CA2180493749
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.58750187_58750190delinsTTTC , CM000677.2:g.58750187_58750190delinsTTTC
GRCh38
NC_000015.9:g.59042386_59042389delinsTTTC , CM000677.1:g.59042386_59042389delinsTTTC
GRCh37
NC_000015.8:g.56829678_56829681delinsTTTC
NCBI36
NG_033876.1:g.4789_4792delinsGAAA
NG_033876.2:g.4518_4521delinsGAAA
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