Canonical Allele Identifier: PA2573198214
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1505791
ClinVar RCV Id: RCV001999599 RCV002498030 RCV002466737
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Ala683Thr
CA371307649
NM_001316690.1:c.2047G>A