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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:
CA1439322638
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.12767431_12767434delinsGTTC , CM000666.2:g.12767431_12767434delinsGTTC
GRCh38
NC_000004.11:g.12769055_12769058delinsGTTC , CM000666.1:g.12769055_12769058delinsGTTC
GRCh37
NC_000004.10:g.12378153_12378156delinsGTTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'