ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645400469
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_004306.3:p.Tyr223Phe
CA4650766
NM_004315.6:c.668A>T