ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139725857
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
856430
ClinVar RCV Id:
RCV001061892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Asp2126Tyr
CA371324959
NM_017780.4:c.6376G>T