ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741964431
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2725499
ClinVar RCV Id:
RCV003499621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Ala2391Ser
CA371299730
NM_017780.4:c.7171G>T