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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:
CA2317517758
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.1102031_1102032delinsGA , CM000681.2:g.1102031_1102032delinsGA
GRCh38
NC_000019.9:g.1102030_1102031delinsGA , CM000681.1:g.1102030_1102031delinsGA
GRCh37
NC_000019.8:g.1053030_1053031delinsGA
NCBI36
NG_050621.1:g.3106_3107delinsGA
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