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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:
CA1138669108
Gene:
Linked Data
dbSNP Id:
rs34584913
gnomAD v3:
Y-2791234-A-AT
gnomAD v4:
Y-2791234-A-AT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.2791243dup , CM000686.2:g.2791243dup
GRCh38
NC_000024.9:g.2659284dup , CM000686.1:g.2659284dup
GRCh37
NC_000024.8:g.2719284dup
NCBI36
NG_011751.1:g.1517dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000679518.1:n.106+16504dup
ENST00000681787.1:n.106+16504dup
ENST00000681940.1:n.106+16504dup
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