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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:
CA1072524224
Gene:
Linked Data
gnomAD v3:
5-1392469-A-AGGGGGACAGGTCACACCCAGCACACCTGCGTGGGAGCCTGGGGAG
gnomAD v4:
5-1392469-A-AGGGGGACAGGTCACACCCAGCACACCTGCGTGGGAGCCTGGGGAG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1392517_1392561dup , CM000667.2:g.1392517_1392561dup
GRCh38
NC_000005.9:g.1392632_1392676dup , CM000667.1:g.1392632_1392676dup
GRCh37
NC_000005.8:g.1445632_1445676dup
NCBI36
NG_015885.1:g.57915_57959dup
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