ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA121688
Gene: CLCN5
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001121371.1:p.Trp413Ter
NM_001127899.4:c.1238G>A
NM_001127899.4:c.1239G>A