ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825624526
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_001120977.1:p.Tyr131Cys
CA4650862
NM_001127505.3:c.392A>G