ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830441576
Gene: TTC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
314804
ClinVar RCV Id:
RCV000300734
RCV000353073
RCV001094375
RCV001820932
RCV003888732
RCV003969880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_938052.1:p.Ala448Val
CA7302781
NM_198310.3:c.1343C>T