ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658676912
Gene: CCDC78
HGNC
NCBI
Linked Data
ClinVar Variation Id:
473252
ClinVar RCV Id:
RCV000546211
RCV003945300
RCV004024230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026907.2:p.Arg424Lys
CA7789100
NM_001031737.3:c.1271G>A