Canonical Allele Identifier: PA2573070077
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331252
ClinVar RCV Id: RCV001806597
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Gln716Leu
CA371308142
NM_001316690.1:c.2147A>T