ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139743155
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
977492
ClinVar RCV Id:
RCV001255165
RCV001587294
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358552.1:p.Pro377Leu
CA3510770
NM_001371623.1:c.1130C>T