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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:
CA2210126467
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.16143828_16143830delinsTTA , CM000678.2:g.16143828_16143830delinsTTA
GRCh38
NC_000016.9:g.16237685_16237687delinsTTA , CM000678.1:g.16237685_16237687delinsTTA
GRCh37
NC_000016.8:g.16145186_16145188delinsTTA
NCBI36
NG_028268.1:g.199252_199254delinsTTA
NG_028268.2:g.199252_199254delinsTTA
Transcript Alleles
HGVS
Amino-acid change
XR_933134.1:n.76_78delinsTTA
Search 100 bp 5'
Search 100 bp 3'