ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916009125
Gene: PGAP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50506
ClinVar RCV Id:
RCV000043539
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243165.1:p.Thr221Ile
CA143757
NM_001256236.1:c.662C>T