ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826747757
Gene: TTC7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242605
ClinVar RCV Id:
RCV000428092
RCV001280648
RCV001081100
RCV003227730
RCV003919993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275884.1:p.Ser318Pro
CA060745
NM_001288955.2:c.952T>C