ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826002163
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2435322
ClinVar RCV Id:
RCV003135180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158188.1:p.Thr537Ile
CA381169187
NM_001164716.1:c.1610C>T