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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:
CA824949930
Gene: POLR1C
HGNC
NCBI
Linked Data
dbSNP Id:
rs1261023890
MyVariant Identifiers:
chr6:g.43729721_43729722insG (hg19)
chr6:g.43761984_43761985insG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.43761985dup , CM000668.2:g.43761985dup
GRCh38
NC_000006.11:g.43729722dup , CM000668.1:g.43729722dup
GRCh37
NC_000006.10:g.43837700dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NM_001318876.2:c.945+232714dup
NP_001305805.1:n.945+232714dup
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