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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:
CA1895825827
Gene:
Linked Data
dbSNP Id:
rs7072776
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.21744013A>C , CM000672.2:g.21744013A>C
GRCh38
NC_000010.10:g.22032942A>C , CM000672.1:g.22032942A>C
GRCh37
NC_000010.9:g.22072948A>C
NCBI36
NG_027818.1:g.214842A>C
NG_027818.2:g.214842A>C
Transcript Alleles
HGVS
Amino-acid change
XR_001747388.1:n.1010+6427T>G
Search 100 bp 5'
Search 100 bp 3'