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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:
CA278561055
Gene:
Linked Data
dbSNP Id:
rs756985061
rs2141743781
gnomAD v2:
16-12708218-GCAGTAA-G
gnomAD v3:
16-12614361-GCAGTAA-G
gnomAD v4:
16-12614361-GCAGTAA-G
MyVariant Identifiers:
chr16:g.12708219_12708224del (hg19)
chr16:g.12614362_12614367del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.12614368_12614373del , CM000678.2:g.12614368_12614373del
GRCh38
NC_000016.9:g.12708225_12708230del , CM000678.1:g.12708225_12708230del
GRCh37
NC_000016.8:g.12615726_12615731del
NCBI36
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