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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:
CA993677544
Gene:
Linked Data
gnomAD v3:
19-12890626-CA-C
gnomAD v4:
19-12890626-CA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.12890627del , CM000681.2:g.12890627del
GRCh38
NC_000019.9:g.13001441del , CM000681.1:g.13001441del
GRCh37
NC_000019.8:g.12862441del
NCBI36
NG_009292.1:g.4468del
NG_013087.1:g.1577del
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