ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA104532
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000002402
RCV000081312
RCV000631182
ClinVar Variation:
2312
526617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005600.1:p.Trp798Arg
CA222889
NM_005609.4:c.2392T>C
CA6079524
NM_005609.4:c.2392T>A