ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499253077
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1011292
ClinVar RCV Id:
RCV001309060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350769.1:p.Asp420Asn
CA411647990
NM_001363840.3:c.1258G>A