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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:
CA2633382447
Gene:
Linked Data
gnomAD v4:
16-56960662-CAAG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.56960667_56960669del , CM000678.2:g.56960667_56960669del
GRCh38
NC_000016.9:g.56994579_56994581del , CM000678.1:g.56994579_56994581del
GRCh37
NC_000016.8:g.55552080_55552082del
NCBI36
NG_008952.1:g.3745_3747del
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