ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827319276
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13197
ClinVar RCV Id:
RCV000014084
RCV000761519
RCV001291133
RCV001543486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317452.1:p.Arg119His
CA122956
NM_001330523.2:c.356G>A