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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:
CA763559816
Gene:
Linked Data
dbSNP Id:
rs1158570429
gnomAD v3:
2-203880305-CTT-C
gnomAD v4:
2-203880305-CTT-C
MyVariant Identifiers:
chr2:g.204745029_204745030del (hg19)
chr2:g.203880306_203880307del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.203880307_203880308del , CM000664.2:g.203880307_203880308del
GRCh38
NC_000002.11:g.204745030_204745031del , CM000664.1:g.204745030_204745031del
GRCh37
NC_000002.10:g.204453275_204453276del
NCBI36
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