ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA485514075
Community Standard Title: NC_000014.9:g.22013585A>T
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.22013585A>T , CM000676.2:g.22013585A>T
GRCh38
NC_000014.8:g.22481824A>T , CM000676.1:g.22481824A>T
GRCh37
NC_000014.7:g.21551664A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000553572.2:n.1676A>T
Search 100 bp 5'
Search 100 bp 3'