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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:
CA803977140
Gene:
Linked Data
dbSNP Id:
rs1198185709
gnomAD v3:
5-132406375-CTGGGGTGTGCAGT-C
gnomAD v4:
5-132406375-CTGGGGTGTGCAGT-C
MyVariant Identifiers:
chr5:g.131742068_131742080del (hg19)
chr5:g.132406376_132406388del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.132406379_132406391del , CM000667.2:g.132406379_132406391del
GRCh38
NC_000005.9:g.131742071_131742083del , CM000667.1:g.131742071_131742083del
GRCh37
NC_000005.8:g.131769970_131769982del
NCBI36
Search 100 bp 5'
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