ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825149748
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2108121
ClinVar RCV Id:
RCV003029388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000347.2:p.Ser340Leu
CA3510800
NM_000356.4:c.1019C>T