ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830368939
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
362377
ClinVar RCV Id:
RCV000332641
RCV000709958
RCV000656012
RCV002523651
RCV000853063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808592.2:p.Tyr207Phe
CA4650766
NM_177924.5:c.620A>T