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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:
CA2626329384
Gene:
Linked Data
gnomAD v4:
14-94612354-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.94612355del , CM000676.2:g.94612355del
GRCh38
NC_000014.8:g.95078692del , CM000676.1:g.95078692del
GRCh37
NC_000014.7:g.94148445del
NCBI36
NG_012879.1:g.4979del
Transcript Alleles
HGVS
Amino-acid change
ENST00000553947.1:c.863del
Search 100 bp 5'
Search 100 bp 3'