ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645400470
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000275237
RCV000656011
RCV000710620
RCV002509374
RCV002523650
RCV004549826
ClinVar Variation:
362376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004306.3:p.Met226Thr
CA4650763
NM_004315.6:c.677T>C