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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:
CA2751927282
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.120332003_120332004del , CM000664.2:g.120332003_120332004del
GRCh38
NC_000002.11:g.121089579_121089580del , CM000664.1:g.121089579_121089580del
GRCh37
NC_000002.10:g.120806049_120806050del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011512307.1:c.141+3197_141+3198del
XP_011510609.1:n.141+3197_141+3198del
Search 100 bp 5'
Search 100 bp 3'