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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:
CA2042817519
Gene: HMGA2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1876894614
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.65965910A>C , CM000674.2:g.65965910A>C
GRCh38
NC_000012.11:g.66359690A>C , CM000674.1:g.66359690A>C
GRCh37
NC_000012.10:g.64645957A>C
NCBI36
NG_016296.1:g.146451A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403681.7:c.*2618A>C
MANE Select
ENSP00000384026.2:n.*2618A>C
ENST00000403681.6:c.*2618A>C
ENSP00000384026.2:n.*2618A>C
NM_003483.4:c.*2618A>C
NP_003474.1:n.*2618A>C
NM_003483.6:c.*2618A>C
MANE Select
NP_003474.1:n.*2618A>C
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