Canonical Allele Identifier: PA2573198216
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1353512
ClinVar RCV Id: RCV001863452 RCV002489952 RCV002425112
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Leu695Ser
CA371307839
NM_001316690.1:c.2084T>C