ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828736521
Gene: CCDC78
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425081
ClinVar RCV Id:
RCV000487557
RCV001851289
RCV002525992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364962.1:p.Ala225Asp
CA7789106
NM_001378033.1:c.674C>A