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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:
CA2140882194
Gene: SIX1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1895022521
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.60649463G>C , CM000676.2:g.60649463G>C
GRCh38
NC_000014.8:g.61116181G>C , CM000676.1:g.61116181G>C
GRCh37
NC_000014.7:g.60185934G>C
NCBI36
NG_008231.1:g.4975C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000645694.3:c.-274C>G
MANE Select
ENSP00000494686.1:n.-274C>G
ENST00000553535.2:n.248+2472C>G
ENST00000554986.2:c.42-2886C>G
ENSP00000452700.2:n.42-2886C>G
ENST00000555955.3:n.1197+2472C>G
XM_017021602.2:c.-274C>G
XP_016877091.1:n.-274C>G
NM_005982.4:c.-274C>G
MANE Select
NP_005973.1:n.-274C>G
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