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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:
CA430760595
Gene:
Linked Data
dbSNP Id:
rs148508287
gnomAD v2:
2-199679053-G-GTAA
gnomAD v3:
2-198814329-G-GTAA
gnomAD v4:
2-198814329-G-GTAA
MyVariant Identifiers:
chr2:g.199679059_199679060insTAA (hg19)
chr2:g.199679053_199679054insTAA (hg19)
chr2:g.198814335_198814336insTAA (hg38)
chr2:g.198814329_198814330insTAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.198814353_198814355dup , CM000664.2:g.198814353_198814355dup
GRCh38
NC_000002.11:g.199679077_199679079dup , CM000664.1:g.199679077_199679079dup
GRCh37
NC_000002.10:g.199387322_199387324dup
NCBI36
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