ClinGen Allele Registry
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Canonical Allele Identifier:
CA3712403
Gene: HCP5
HGNC
NCBI
Linked Data
dbSNP Id:
rs769537922
ExAC:
6:31431578 C / G
gnomAD v2:
6-31431578-C-G
gnomAD v3:
6-31463801-C-G
gnomAD v4:
6-31463801-C-G
MyVariant Identifiers:
chr6:g.31431578C>G (hg19)
chr6:g.31463801C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31463801C>G , CM000668.2:g.31463801C>G
GRCh38
NC_000006.11:g.31431578C>G , CM000668.1:g.31431578C>G
GRCh37
NC_000006.10:g.31539557C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040662.1:n.531C>G
Search 100 bp 5'
Search 100 bp 3'