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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:
CA1715429814
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.69146996_69146997delinsTA , CM000669.2:g.69146996_69146997delinsTA
GRCh38
NC_000007.13:g.68611983_68611984delinsTA , CM000669.1:g.68611983_68611984delinsTA
GRCh37
NC_000007.12:g.68249919_68249920delinsTA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_927647.1:n.88-871_88-870delinsTA
Search 100 bp 5'
Search 100 bp 3'