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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
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Canonical Allele Identifier:
CA1562162888
Gene: MEF2C-AS2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.88707647_88707648delinsTG , CM000667.2:g.88707647_88707648delinsTG
GRCh38
NC_000005.9:g.88003464_88003465delinsTG , CM000667.1:g.88003464_88003465delinsTG
GRCh37
NC_000005.8:g.88039220_88039221delinsTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_146284.1:n.180+1991_180+1992delinsTG
Search 100 bp 5'
Search 100 bp 3'