ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915992847
Gene: PGM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198483
ClinVar RCV Id:
RCV000179849
RCV000344895
RCV000385150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166289.1:p.Ala386Val
CA247153
NM_001172818.1:c.1157C>T