ClinGen Allele Registry
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Canonical Allele Identifier:
PA915953378
Gene: CLCN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000987988
RCV001519256
RCV001528988
RCV001579208
ClinVar Variation:
802378
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Gly118Trp
CA4536919
NM_000083.3:c.352G>T