ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101613
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2022
ClinVar RCV Id:
RCV000002100
RCV000081828
RCV000763598
RCV002287316
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Ile1028Val
CA223285
NM_017780.4:c.3082A>G