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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:
CA2344305902
Gene: DUXA
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.57166779A= , CM000681.2:g.57166779A=
GRCh38
NC_000019.9:g.57678147A= , CM000681.1:g.57678147A=
GRCh37
NC_000019.8:g.62369959A=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000554048.3:c.25+640T=
MANE Select
ENSP00000452398.1:n.25+640T=
ENST00000554048.2:c.25+640T=
ENSP00000452398.1:n.25+640T=
NM_001012729.1:c.25+640T=
NP_001012747.1:n.25+640T=
NM_001012729.2:c.25+640T=
MANE Select
NP_001012747.1:n.25+640T=
Search 100 bp 5'
Search 100 bp 3'