ClinGen Allele Registry
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Canonical Allele Identifier:
PA645503145
Gene: CC2D1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000500485
RCV001332174
RCV003718245
RCV003960154
ClinVar Variation:
434603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060191.3:p.Met533Val
CA9244723
NM_017721.5:c.1597A>G