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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:
CA1696282961
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27298257_27298261delinsGTTCT , CM000669.2:g.27298257_27298261delinsGTTCT
GRCh38
NC_000007.13:g.27337876_27337880delinsGTTCT , CM000669.1:g.27337876_27337880delinsGTTCT
GRCh37
NC_000007.12:g.27304401_27304405delinsGTTCT
NCBI36
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Search 100 bp 3'