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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:
CA1706590020
Gene:
Linked Data
dbSNP Id:
rs1585058281
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.50405588_50405589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.2:g.50405588_50405589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38
NC_000007.13:g.50473286_50473287insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.1:g.50473286_50473287insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37
NC_000007.12:g.50440780_50440781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NCBI36
NG_034231.1:g.106506_106507insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
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