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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:
CA966508222
Gene:
Linked Data
dbSNP Id:
rs2056448018
gnomAD v3:
14-99682652-CAG-C
gnomAD v4:
14-99682652-CAG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.99682653_99682654del , CM000676.2:g.99682653_99682654del
GRCh38
NC_000014.8:g.100148990_100148991del , CM000676.1:g.100148990_100148991del
GRCh37
NC_000014.7:g.99218743_99218744del
NCBI36
NG_007963.1:g.3236_3237del
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