ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915970277
Gene: CTSC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000007724
RCV000128617
RCV002512877
ClinVar Variation:
7301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001805.4:p.Tyr347Cys
CA118701
NM_001814.6:c.1040A>G