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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:
CA2668472130
Gene:
Linked Data
gnomAD v4:
3-169764570-CGCACGA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764571_169764576del , CM000665.2:g.169764571_169764576del
GRCh38
NC_000003.11:g.169482359_169482364del , CM000665.1:g.169482359_169482364del
GRCh37
NC_000003.10:g.170965053_170965058del
NCBI36
NG_016363.1:g.5485_5490del , LRG_347:g.5485_5490del
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