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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:
CA1929289760
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94937315_94937318delinsTATG , CM000672.2:g.94937315_94937318delinsTATG
GRCh38
NC_000010.10:g.96697072_96697075delinsTATG , CM000672.1:g.96697072_96697075delinsTATG
GRCh37
NC_000010.9:g.96687062_96687065delinsTATG
NCBI36
NG_008385.1:g.3658_3661delinsTATG
NG_008385.2:g.4158_4161delinsTATG
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