ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA102839
Gene: HGD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000003315
ClinVar Variation:
3165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000178.2:p.Pro230Ser
CA340042
NM_000187.4:c.688C>T