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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:
CA1099625391
Gene:
Linked Data
gnomAD v3:
7-27298260-C-CTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
7-27298260-C-CTTTTTTTTTTTTTTTTTTTTTTTTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27298282_27298283insTTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.2:g.27298282_27298283insTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38
NC_000007.13:g.27337901_27337902insTTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.1:g.27337901_27337902insTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37
NC_000007.12:g.27304426_27304427insTTTTTTTTTTTTTTTTTTTTTTTTT
NCBI36
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