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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:
CA66201773
Gene:
Linked Data
dbSNP Id:
rs5838863
gnomAD v3:
2-221207340-CAA-C
gnomAD v4:
2-221207340-CAA-C
MyVariant Identifiers:
chr2:g.222072061_222072062del (hg19)
chr2:g.221207341_221207342del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.221207361_221207362del , CM000664.2:g.221207361_221207362del
GRCh38
NC_000002.11:g.222072081_222072082del , CM000664.1:g.222072081_222072082del
GRCh37
NC_000002.10:g.221780325_221780326del
NCBI36
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