ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580492022
Gene: CTDP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2187909
ClinVar RCV Id:
RCV002616123
RCV004070480
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_430255.2:p.Ala58Ser
CA402825104
NM_048368.4:c.172G>T