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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:
CA917969285
Gene:
Linked Data
dbSNP Id:
rs1185175121
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27298259_27298260insTTT , CM000669.2:g.27298259_27298260insTTT
GRCh38
NC_000007.13:g.27337878_27337879insTTT , CM000669.1:g.27337878_27337879insTTT
GRCh37
NC_000007.12:g.27304403_27304404insTTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'