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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:
CA2589876355
Gene:
Linked Data
gnomAD v3:
16-172048-GA-G
gnomAD v4:
16-172048-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.172049del , CM000678.2:g.172049del
GRCh38
NC_000016.9:g.222048del , CM000678.1:g.222048del
GRCh37
NC_000016.8:g.162048del
NCBI36
NG_000006.1:g.32912del
NG_059186.1:g.399del
NG_059271.1:g.4203del
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