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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:
CA1880834264
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129576745_129576748delinsAGGC , CM000671.2:g.129576745_129576748delinsAGGC
GRCh38
NC_000009.11:g.132339024_132339027delinsAGGC , CM000671.1:g.132339024_132339027delinsAGGC
GRCh37
NC_000009.10:g.131378845_131378848delinsAGGC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_930390.1:n.182+1147_182+1150delinsAGGC
Search 100 bp 5'
Search 100 bp 3'