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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:
CA2585713687
Gene:
Linked Data
gnomAD v4:
19-44905736-TGGGGGAGG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.44905740_44905747del , CM000681.2:g.44905740_44905747del
GRCh38
NC_000019.9:g.45408997_45409004del , CM000681.1:g.45408997_45409004del
GRCh37
NC_000019.8:g.50100837_50100844del
NCBI36
NG_007084.2:g.4959_4966del
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