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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:
CA1123443981
Gene:
Linked Data
gnomAD v3:
9-38750564-CATGTACACGTATATACAT-C
gnomAD v4:
9-38750564-CATGTACACGTATATACAT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.38750567_38750584del , CM000671.2:g.38750567_38750584del
GRCh38
NC_000009.11:g.38750564_38750581del , CM000671.1:g.38750564_38750581del
GRCh37
NC_000009.10:g.38740564_38740581del
NCBI36
Search 100 bp 5'
Search 100 bp 3'