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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:
CA2673087498
Gene:
Linked Data
gnomAD v4:
5-1445484-GCCCCGCCCTCCCGCCGACGGGGTCGCCCTCGCGTCCTGGCTCCTCCTCCTCACCTCCCCGGGCCGCGCCCCCGC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1445492_1445565del , CM000667.2:g.1445492_1445565del
GRCh38
NC_000005.9:g.1445607_1445680del , CM000667.1:g.1445607_1445680del
GRCh37
NC_000005.8:g.1498607_1498680del
NCBI36
NG_015885.1:g.4871_4944del
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