ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828736167
Gene: CCDC78
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000487557
RCV001851289
RCV002525992
ClinVar Variation:
425081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364959.1:p.Ala414Asp
CA7789106
NM_001378030.1:c.1241C>A