ClinGen Allele Registry
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Canonical Allele Identifier:
CA904572893
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.193865921G>T
GRCh37
chr3:g.193583710G>T
Linked Data - Sequence & Population
gnomAD v3:
3:193865921 G / T
gnomAD v4:
chr3-193865921-G-T
Linked Data - NCBI & NCI
dbSNP:
604222
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.193865921G>T , CM000665.2:g.193865921G>T
GRCh38
NC_000003.11:g.193583710G>T , CM000665.1:g.193583710G>T
GRCh37
NC_000003.10:g.195066404G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741075.1:n.2311-13304C>A
Search 100 bp 5'
Search 100 bp 3'