ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499283801
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1058678
ClinVar RCV Id:
RCV001367844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Val2571Ile
CA371304529
NM_017780.4:c.7711G>A