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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:
CA1099625384
Gene:
Linked Data
gnomAD v3:
7-27298260-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
7-27298260-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27298282_27298283insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.2:g.27298282_27298283insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38
NC_000007.13:g.27337901_27337902insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.1:g.27337901_27337902insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37
NC_000007.12:g.27304426_27304427insTTTTTTTTTTTTTTTTTTTTTTTTTTT
NCBI36
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