ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573270405
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1493051
ClinVar RCV Id:
RCV001984076
RCV002225957
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Pro521Leu
CA4759514
NM_017780.4:c.1562C>T