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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:
CA1624673499
Gene: POLR1C
HGNC
NCBI
Linked Data
dbSNP Id:
rs1762839705
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.43762009del , CM000668.2:g.43762009del
GRCh38
NC_000006.11:g.43729746del , CM000668.1:g.43729746del
GRCh37
NC_000006.10:g.43837724del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NM_001318876.2:c.945+232738del
NP_001305805.1:n.945+232738del
Search 100 bp 5'
Search 100 bp 3'