ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916021788
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
644287
ClinVar RCV Id:
RCV000798167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303619.1:p.Asn698Ser
CA371307880
NM_001316690.1:c.2093A>G