ClinGen Allele Registry
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Canonical Allele Identifier:
CA449649281
Gene: HCP5
HGNC
NCBI
Linked Data
dbSNP Id:
rs1244346415
gnomAD v2:
6-31431490-T-C
gnomAD v3:
6-31463713-T-C
gnomAD v4:
6-31463713-T-C
MyVariant Identifiers:
chr6:g.31431490T>C (hg19)
chr6:g.31463713T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31463713T>C , CM000668.2:g.31463713T>C
GRCh38
NC_000006.11:g.31431490T>C , CM000668.1:g.31431490T>C
GRCh37
NC_000006.10:g.31539469T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040662.1:n.443T>C
Search 100 bp 5'
Search 100 bp 3'