ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827412130
Gene: PDGFRA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41795
ClinVar RCV Id:
RCV000034717
RCV002399366
RCV003473259
ClinVar Variation Id:
459018
ClinVar RCV Id:
RCV000121782
RCV000550761
RCV002413470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334758.1:p.Pro567Leu
CA161399
NM_001347829.2:c.1700_1701delinsTG
CA215861
NM_001347829.2:c.1700C>T