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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:
CA1979721437
Gene: ACTN3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.66560645G= , CM000673.2:g.66560645G=
GRCh38
NG_013304.2:g.18726G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000513398.2:c.1750G=
MANE Select
ENSP00000426797.1:p.Gly584=
ENST00000502692.5:c.1879G=
ENSP00000422007.1:p.Gly627=
ENST00000513398.1:c.1750G=
ENSP00000426797.1:p.Gly584=
NM_001104.3:c.1750G=
NP_001095.2:p.Gly584=
NM_001258371.2:c.1879G=
NP_001245300.2:p.Gly627=
NM_001104.4:c.1750G=
MANE Select
NP_001095.2:p.Gly584=
NM_001258371.3:c.1879G=
NP_001245300.2:p.Gly627=
Search 100 bp 5'
Search 100 bp 3'