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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:
CA1027923261
Gene:
Linked Data
gnomAD v3:
2-16458245-TCAGC-T
gnomAD v4:
2-16458245-TCAGC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458246_16458249del , CM000664.2:g.16458246_16458249del
GRCh38
NC_000002.11:g.16639514_16639517del , CM000664.1:g.16639514_16639517del
GRCh37
NC_000002.10:g.16502995_16502998del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939752.1:n.396-3155_396-3152del
Search 100 bp 5'
Search 100 bp 3'