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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:
CA2673087462
Gene:
Linked Data
gnomAD v4:
5-1445478-CGCCCCGCCCCGCCCTCCCGCCGACGGGGTCGCCCTCGCGTCCTGGCTCCTCCTCCTCACCTCCCCGGGCCGCG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1445479_1445551del , CM000667.2:g.1445479_1445551del
GRCh38
NC_000005.9:g.1445594_1445666del , CM000667.1:g.1445594_1445666del
GRCh37
NC_000005.8:g.1498594_1498666del
NCBI36
NG_015885.1:g.4878_4950del
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