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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:
CA2585716871
Gene:
Linked Data
gnomAD v4:
19-44911016-AGTTGTGATGTCTACCCCTCATGTTT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.44911017_44911041del , CM000681.2:g.44911017_44911041del
GRCh38
NC_000019.9:g.45414274_45414298del , CM000681.1:g.45414274_45414298del
GRCh37
NC_000019.8:g.50106114_50106138del
NCBI36
NG_007084.2:g.10236_10260del
NG_012859.1:g.1354_1378del
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