ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499227892
Gene: CLCN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Ser264Phe
CA369687500
NM_000083.3:c.791C>T