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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:
CA2626329289
Gene:
Linked Data
gnomAD v4:
14-94612252-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.94612253del , CM000676.2:g.94612253del
GRCh38
NC_000014.8:g.95078590del , CM000676.1:g.95078590del
GRCh37
NC_000014.7:g.94148343del
NCBI36
NG_012879.1:g.4877del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000553947.1:c.805-44del
Search 100 bp 5'
Search 100 bp 3'