ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827193893
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
260136
ClinVar RCV:
RCV000255770
RCV000701162
RCV004017572
ClinVar Variation:
265169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310472.1:p.Ser102Leu
CA8234955
NM_001323543.2:c.305C>T