ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826743971
Gene: CLCN7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278.1:p.Ala465Asp
CA394188160
NM_001287.6:c.1394C>A