Canonical Allele Identifier: PA2573198209
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1393105
ClinVar RCV Id: RCV001912487
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Lys673Gln
CA371307446
NM_001316690.1:c.2017A>C