ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA449650040
Gene: HCP5
HGNC
NCBI
Linked Data
dbSNP Id:
rs1187543545
gnomAD v2:
6-31431680-G-A
gnomAD v4:
6-31463903-G-A
MyVariant Identifiers:
chr6:g.31431680G>A (hg19)
chr6:g.31463903G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31463903G>A , CM000668.2:g.31463903G>A
GRCh38
NC_000006.11:g.31431680G>A , CM000668.1:g.31431680G>A
GRCh37
NC_000006.10:g.31539659G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_040662.1:n.633G>A
Search 100 bp 5'
Search 100 bp 3'