ClinGen Allele Registry
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Canonical Allele Identifier:
CA719894001
Gene: CTF2P
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr16:g.30907166C>A
GRCh37
chr16:g.30918487C>A
Linked Data - NCBI & NCI
dbSNP:
11649653
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.30907166C>A , CM000678.2:g.30907166C>A
GRCh38
NC_000016.9:g.30918487C>A , CM000678.1:g.30918487C>A
GRCh37
NC_000016.8:g.30825988C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000412003.1:n.153+318G>T
Search 100 bp 5'
Search 100 bp 3'