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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:
CA730385792
Gene: MDM4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1240535626
gnomAD v3:
1-204559983-TTAAAA-T
gnomAD v4:
1-204559983-TTAAAA-T
MyVariant Identifiers:
chr1:g.204529112_204529116del (hg19)
chr1:g.204559984_204559988del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.204559988_204559992del , CM000663.2:g.204559988_204559992del
GRCh38
NC_000001.10:g.204529116_204529120del , CM000663.1:g.204529116_204529120del
GRCh37
NC_000001.9:g.202795739_202795743del
NCBI36
NG_029367.1:g.48610_48614del
Transcript Alleles
HGVS
Amino-acid change
XM_011509565.1:c.*10+1259_*10+1263del
XP_011507867.1:n.*10+1259_*10+1263del
XR_001738394.2:n.403_407del
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