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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:
CA2317697912
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.1396964_1396968delinsCAGTG , CM000681.2:g.1396964_1396968delinsCAGTG
GRCh38
NC_000019.9:g.1396963_1396967delinsCAGTG , CM000681.1:g.1396963_1396967delinsCAGTG
GRCh37
NC_000019.8:g.1347963_1347967delinsCAGTG
NCBI36
NG_008283.1:g.18081_18085delinsCAGTG
NG_009785.1:g.9586_9590delinsCACTG
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