ClinGen Allele Registry
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Canonical Allele Identifier:
PA915953692
Gene: CLCN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
421623
ClinVar RCV:
RCV000494058
RCV000536398
RCV003317242
ClinVar Variation:
429659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.Gly411Cys
CA4537282
NM_000083.3:c.1231G>T