ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916012841
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_001269210.1:p.Arg146Cys
CA8845460
NM_001282281.2:c.436C>T