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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:
CA561144704
Gene: MEF2C-AS2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1474395131
gnomAD v2:
5-88003300-GTCCTTACCACAGTCTTCCAGTCTGCCA-G
gnomAD v3:
5-88707483-GTCCTTACCACAGTCTTCCAGTCTGCCA-G
gnomAD v4:
5-88707483-GTCCTTACCACAGTCTTCCAGTCTGCCA-G
MyVariant Identifiers:
chr5:g.88003301_88003327del (hg19)
chr5:g.88707484_88707510del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.88707485_88707511del , CM000667.2:g.88707485_88707511del
GRCh38
NC_000005.9:g.88003302_88003328del , CM000667.1:g.88003302_88003328del
GRCh37
NC_000005.8:g.88039058_88039084del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_146284.1:n.180+1829_180+1855del
Search 100 bp 5'
Search 100 bp 3'