ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091281
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204801
ClinVar RCV Id:
RCV000186696
RCV000763485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000017.1:p.Ser447Pro
CA313120
NM_000026.3:c.1339T>C