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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:
CA646937803
Gene:
Linked Data
gnomAD v3:
2-71808485-AC-A
gnomAD v4:
2-71808485-AC-A
COSMIC:
COSN25017726
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.71808491del , CM000664.2:g.71808491del
GRCh38
NC_000002.11:g.72035621del , CM000664.1:g.72035621del
GRCh37
NC_000002.10:g.71889129del
NCBI36
Search 100 bp 5'
Search 100 bp 3'