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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:
CA1138670295
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.2818588del , CM000686.2:g.2818588del
GRCh38
NC_000024.9:g.2686629del , CM000686.1:g.2686629del
GRCh37
NC_000024.8:g.2746629del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000679518.1:n.107-22898del
ENST00000681787.1:n.107-22440del
ENST00000681940.1:n.107-27058del
Search 100 bp 5'
Search 100 bp 3'