ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645469588
Gene: HGD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000359600
ClinVar Variation:
342751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000178.2:p.Pro103Thr
CA2560267
NM_000187.4:c.307C>A