ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA155690
Gene: TCOF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000118615
RCV001521229
RCV001640100
ClinVar Variation:
130574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000347.2:p.Ala1313Val
CA155689
NM_000356.4:c.3938C>T