ClinGen Allele Registry
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Canonical Allele Identifier:
CA823770331
Gene: POLR1HASP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.29982433A>T
GRCh37
chr6:g.29950210A>T
Linked Data - NCBI & NCI
dbSNP:
401618
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.29982433A>T , CM000668.2:g.29982433A>T
GRCh38
NC_000006.11:g.29950210A>T , CM000668.1:g.29950210A>T
GRCh37
NC_000006.10:g.30058189A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000688495.1:n.361-5038T>A
Search 100 bp 5'
Search 100 bp 3'