ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828108536
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_001350672.1:p.Met145Thr
CA4650763
NM_001363743.1:c.434T>C