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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:
CA1490352463
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122593332_122593335delinsTCTC , CM000666.2:g.122593332_122593335delinsTCTC
GRCh38
NC_000004.11:g.123514487_123514490delinsTCTC , CM000666.1:g.123514487_123514490delinsTCTC
GRCh37
NC_000004.10:g.123733937_123733940delinsTCTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'