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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:
CA2651782618
Gene: ADRA1D
HGNC
NCBI
Linked Data
gnomAD v4:
20-4221311-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.4221312del , CM000682.2:g.4221312del
GRCh38
NC_000020.10:g.4201959del , CM000682.1:g.4201959del
GRCh37
NC_000020.9:g.4149959del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000379453.6:c.*211del
MANE Select
ENSP00000368766.4:n.*211del
ENST00000379453.5:c.*211del
ENSP00000368766.4:n.*211del
NM_000678.3:c.*211del
NP_000669.1:n.*211del
NM_000678.4:c.*211del
MANE Select
NP_000669.1:n.*211del
Search 100 bp 5'
Search 100 bp 3'