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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:
CA136013181
Gene: POLR1HASP
HGNC
NCBI
HCG9
HGNC
NCBI
Linked Data
dbSNP Id:
rs754278910
gnomAD v2:
6-29945182-A-AC
gnomAD v3:
6-29977405-A-AC
gnomAD v4:
6-29977405-A-AC
MyVariant Identifiers:
chr6:g.29945182_29945183insC (hg19)
chr6:g.29977405_29977406insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.29977405_29977406insC , CM000668.2:g.29977405_29977406insC
GRCh38
NC_000006.11:g.29945182_29945183insC , CM000668.1:g.29945182_29945183insC
GRCh37
NC_000006.10:g.30053161_30053162insC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000688495.1:n.361-11_361-10insG
(POLR1HASP)
NR_028032.1:n.404-249_404-248insC
(HCG9)
Search 100 bp 5'
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