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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:
CA2042816374
Gene: HMGA2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1876848410
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.65964409dup , CM000674.2:g.65964409dup
GRCh38
NC_000012.11:g.66358189dup , CM000674.1:g.66358189dup
GRCh37
NC_000012.10:g.64644456dup
NCBI36
NG_016296.1:g.144950dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403681.7:c.*1117dup
MANE Select
ENSP00000384026.2:n.*1117dup
ENST00000403681.6:c.*1117dup
ENSP00000384026.2:n.*1117dup
NM_003483.4:c.*1117dup
NP_003474.1:n.*1117dup
NM_003483.6:c.*1117dup
MANE Select
NP_003474.1:n.*1117dup
Search 100 bp 5'
Search 100 bp 3'