ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827319375
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000014079
ClinVar Variation:
13191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317452.1:p.Gly206Trp
CA122952
NM_001330523.2:c.616G>T