ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580334018
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2100385
ClinVar RCV Id:
RCV003014369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005600.1:p.His451_Ala457del
CA2580084649
NM_005609.4:c.1352_1372del