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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:
CA2538251583
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.9169743_9169746del , CM000678.2:g.9169743_9169746del
GRCh38
NC_000016.9:g.9263600_9263603del , CM000678.1:g.9263600_9263603del
GRCh37
NC_000016.8:g.9171101_9171104del
NCBI36
Search 100 bp 5'
Search 100 bp 3'