ClinGen Allele Registry
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Canonical Allele Identifier:
CA3712434
Gene: HCP5
HGNC
NCBI
Linked Data
dbSNP Id:
rs145345648
ExAC:
6:31431766 G / A
gnomAD v2:
6-31431766-G-A
gnomAD v3:
6-31463989-G-A
gnomAD v4:
6-31463989-G-A
MyVariant Identifiers:
chr6:g.31431766G>A (hg19)
chr6:g.31463989G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31463989G>A , CM000668.2:g.31463989G>A
GRCh38
NC_000006.11:g.31431766G>A , CM000668.1:g.31431766G>A
GRCh37
NC_000006.10:g.31539745G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040662.1:n.719G>A
Search 100 bp 5'
Search 100 bp 3'