ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573065025
Gene: CCDC88C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1337020
ClinVar RCV Id:
RCV001819506
RCV002542032
RCV004040976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073883.2:p.Pro1969Leu
CA7308562
NM_001080414.4:c.5906C>T