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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:
CA2671508662
Gene: ADH4
HGNC
NCBI
Linked Data
gnomAD v4:
4-99144368-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99144371del , CM000666.2:g.99144371del
GRCh38
NC_000004.11:g.100065522del , CM000666.1:g.100065522del
GRCh37
NC_000004.10:g.100284545del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000504581.1:n.170-1589del
NR_037884.1:n.680-10174del
Search 100 bp 5'
Search 100 bp 3'