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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:
CA2526018346
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1392455_1392587del , CM000667.2:g.1392455_1392587del
GRCh38
NC_000005.9:g.1392570_1392702del , CM000667.1:g.1392570_1392702del
GRCh37
NC_000005.8:g.1445570_1445702del
NCBI36
NG_015885.1:g.57861_57993del
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