ClinGen Allele Registry
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Canonical Allele Identifier:
CA1139039833
Gene: RBMY2QP
HGNC
NCBI
Linked Data
gnomAD v3:
Y-9981720-A-C
gnomAD v4:
Y-9981720-A-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.9981720A>C , CM000686.2:g.9981720A>C
GRCh38
NC_000024.9:g.9819329A>C , CM000686.1:g.9819329A>C
GRCh37
NC_000024.8:g.10429329A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000651645.1:n.1003+7470T>G
Search 100 bp 5'
Search 100 bp 3'