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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:
CA2446582912
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.96406485_96406489delinsCTCTT , CM000685.2:g.96406485_96406489delinsCTCTT
GRCh38
NC_000023.10:g.95661484_95661488delinsCTCTT , CM000685.1:g.95661484_95661488delinsCTCTT
GRCh37
NC_000023.9:g.95548140_95548144delinsCTCTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'