ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829884848
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2136122
ClinVar RCV Id:
RCV003037014
RCV003603130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Asn2742His
CA4760970
NM_017780.4:c.8224A>C