ClinGen Allele Registry
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Canonical Allele Identifier:
CA449650062
Gene: HCP5
HGNC
NCBI
Linked Data - Expert Curation
COSMIC:
COSM3624531
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.31463910C>T
GRCh37
chr6:g.31431687C>T
Linked Data - Sequence & Population
gnomAD v2:
6:31431687 C / T
gnomAD v4:
chr6-31463910-C-T
Linked Data - NCBI & NCI
dbSNP:
1190957099
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31463910C>T , CM000668.2:g.31463910C>T
GRCh38
NC_000006.11:g.31431687C>T , CM000668.1:g.31431687C>T
GRCh37
NC_000006.10:g.31539666C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040662.1:n.640C>T
Search 100 bp 5'
Search 100 bp 3'