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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:
CA1522633312
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1392512_1392513delinsGA , CM000667.2:g.1392512_1392513delinsGA
GRCh38
NC_000005.9:g.1392627_1392628delinsGA , CM000667.1:g.1392627_1392628delinsGA
GRCh37
NC_000005.8:g.1445627_1445628delinsGA
NCBI36
NG_015885.1:g.57916_57917delinsTC
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