ClinGen Allele Registry
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Canonical Allele Identifier:
CA3712420
Gene: HCP5
HGNC
NCBI
Linked Data
dbSNP Id:
rs745719333
ExAC:
6:31431684 C / T
gnomAD v2:
6-31431684-C-T
gnomAD v3:
6-31463907-C-T
gnomAD v4:
6-31463907-C-T
MyVariant Identifiers:
chr6:g.31431684C>T (hg19)
chr6:g.31463907C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31463907C>T , CM000668.2:g.31463907C>T
GRCh38
NC_000006.11:g.31431684C>T , CM000668.1:g.31431684C>T
GRCh37
NC_000006.10:g.31539663C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_040662.1:n.637C>T
Search 100 bp 5'
Search 100 bp 3'