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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:
CA2672810756
Gene:
Linked Data
gnomAD v4:
4-184627598-TGAC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.184627599_184627601del , CM000666.2:g.184627599_184627601del
GRCh38
NC_000004.11:g.185548753_185548755del , CM000666.1:g.185548753_185548755del
GRCh37
NC_000004.10:g.185785747_185785749del
NCBI36
Search 100 bp 5'
Search 100 bp 3'