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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:
CA2785723642
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.117702555_117702556del , CM000671.2:g.117702555_117702556del
GRCh38
NC_000009.11:g.120464833_120464834del , CM000671.1:g.120464833_120464834del
GRCh37
NC_000009.10:g.119504654_119504655del
NCBI36
NG_011475.1:g.3374_3375del
NG_011475.2:g.3153_3154del
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