ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573075570
Gene: CC2D2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210608
ClinVar RCV Id:
RCV000194608
RCV000862063
RCV001149616
RCV001149617
RCV001705077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365544.1:p.Val660Ile
CA208880
NM_001378615.1:c.1978G>A