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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:
CA566818413
Gene: POLR1C
HGNC
NCBI
Linked Data
dbSNP Id:
rs1411575603
gnomAD v2:
6-43729723-C-T
gnomAD v3:
6-43761986-C-T
gnomAD v4:
6-43761986-C-T
MyVariant Identifiers:
chr6:g.43729723C>T (hg19)
chr6:g.43761986C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.43761986C>T , CM000668.2:g.43761986C>T
GRCh38
NC_000006.11:g.43729723C>T , CM000668.1:g.43729723C>T
GRCh37
NC_000006.10:g.43837701C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NM_001318876.2:c.945+232715C>T
NP_001305805.1:n.945+232715C>T
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