ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA111540
Gene: HPGD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7917
ClinVar RCV Id:
RCV000008379
RCV000144084
RCV001781205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000851.2:p.Ala140Pro
CA119153
NM_000860.6:c.418G>C