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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:
CA1119153667
Gene: CCDC26
HGNC
NCBI
Linked Data
dbSNP Id:
rs2030944452
gnomAD v3:
8-129633308-G-GTGTTC
gnomAD v4:
8-129633308-G-GTGTTC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.129633308_129633309insTGTTC , CM000670.2:g.129633308_129633309insTGTTC
GRCh38
NC_000008.10:g.130645554_130645555insTGTTC , CM000670.1:g.130645554_130645555insTGTTC
GRCh37
NC_000008.9:g.130714736_130714737insTGTTC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_130917.1:n.312+46619_312+46620insGAACA
Search 100 bp 5'
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