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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:
CA2333483063
Gene: HPN-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2064624665
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.35068428_35068437del , CM000681.2:g.35068428_35068437del
GRCh38
NC_000019.9:g.35559332_35559341del , CM000681.1:g.35559332_35559341del
GRCh37
NC_000019.8:g.40251172_40251181del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_024562.1:n.405-8655_405-8646del
Search 100 bp 5'
Search 100 bp 3'