ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827319278
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488456
ClinVar RCV Id:
RCV000578310
RCV001550766
RCV002509452
RCV003945359
RCV003992334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317452.1:p.Arg119Cys
CA8845460
NM_001330523.2:c.355C>T