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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:
CA276414134
Gene:
Linked Data
dbSNP Id:
rs547253663
gnomAD v2:
16-222016-AC-A
gnomAD v3:
16-172017-AC-A
gnomAD v4:
16-172017-AC-A
MyVariant Identifiers:
chr16:g.222017del (hg19)
chr16:g.172018del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.172019del , CM000678.2:g.172019del
GRCh38
NC_000016.9:g.222018del , CM000678.1:g.222018del
GRCh37
NC_000016.8:g.162018del
NCBI36
NG_000006.1:g.32882del
NG_059186.1:g.369del
NG_059271.1:g.4173del
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