ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA097614
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93163
ClinVar RCV Id:
RCV000174007
RCV001578422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Ala392Val
CA221042
NM_000512.5:c.1175C>T