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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:
CA853453109
Gene: PENK-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1206348921
gnomAD v3:
8-56448019-TCTACAGTCGCTAGGAC-T
gnomAD v4:
8-56448019-TCTACAGTCGCTAGGAC-T
MyVariant Identifiers:
chr8:g.57360579_57360594del (hg19)
chr8:g.56448020_56448035del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.56448022_56448037del , CM000670.2:g.56448022_56448037del
GRCh38
NC_000008.10:g.57360581_57360596del , CM000670.1:g.57360581_57360596del
GRCh37
NC_000008.9:g.57523135_57523150del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_125813.1:n.694+1522_694+1537del
Search 100 bp 5'
Search 100 bp 3'