ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830368853
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375548
ClinVar RCV Id:
RCV000416939
RCV001861470
RCV004551416
RCV002502451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808592.2:p.Tyr137Cys
CA4650862
NM_177924.5:c.410A>G