ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645398429
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
363445
ClinVar RCV Id:
RCV000322922
RCV001574929
RCV002379248
RCV002058739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Val344Ile
CA4759417
NM_017780.4:c.1030G>A