ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA155693
Gene: TCOF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
130575
ClinVar RCV Id:
RCV000118616
RCV000556892
RCV000993289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000347.2:p.Gly1354Ala
CA155692
NM_000356.4:c.4061G>C