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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:
CA2123181431
Gene:
Linked Data
dbSNP Id:
rs1286473556
gnomAD v4:
14-22836446-TC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.22836448del , CM000676.2:g.22836448del
GRCh38
NC_000014.8:g.23305657del , CM000676.1:g.23305657del
GRCh37
NC_000014.7:g.22375497del
NCBI36
NG_046989.1:g.4916del
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