ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA102447
Gene: HGD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65578
ClinVar RCV Id:
RCV000055782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000178.2:p.Cys120Trp
CA344906
NM_000187.4:c.360T>G