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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:
CA2650926640
Gene: ACTA1
HGNC
NCBI
Linked Data
gnomAD v4:
1-229431992-A-AC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.229431994dup , CM000663.2:g.229431994dup
GRCh38
NC_000001.10:g.229567741dup , CM000663.1:g.229567741dup
GRCh37
NC_000001.9:g.227634364dup
NCBI36
NG_006672.1:g.7104dup , LRG_429:g.7104dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000366683.4:c.808+1dup
ENST00000684723.1:c.673+1dup
ENST00000366683.3:c.480-131dup
ENSP00000355644.3:n.480-131dup
ENST00000366684.7:c.808+1dup
NM_001100.3:c.808+1dup , LRG_429t1:c.808+1dup
NM_001100.4:c.808+1dup
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