ClinGen Allele Registry
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Canonical Allele Identifier:
CA3712438
Gene: HCP5
HGNC
NCBI
Linked Data
dbSNP Id:
rs750175694
ExAC:
6:31431794 T / G
gnomAD v2:
6-31431794-T-G
gnomAD v3:
6-31464017-T-G
gnomAD v4:
6-31464017-T-G
MyVariant Identifiers:
chr6:g.31431794T>G (hg19)
chr6:g.31464017T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31464017T>G , CM000668.2:g.31464017T>G
GRCh38
NC_000006.11:g.31431794T>G , CM000668.1:g.31431794T>G
GRCh37
NC_000006.10:g.31539773T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_040662.1:n.747T>G
Search 100 bp 5'
Search 100 bp 3'