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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:
CA2505385838
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.12890612_12890615del , CM000681.2:g.12890612_12890615del
GRCh38
NC_000019.9:g.13001426_13001429del , CM000681.1:g.13001426_13001429del
GRCh37
NC_000019.8:g.12862426_12862429del
NCBI36
NG_009292.1:g.4453_4456del
NG_013087.1:g.1589_1592del
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