ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091283
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204807
ClinVar RCV Id:
RCV000186703
RCV000193076
RCV000415212
RCV002513975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000017.1:p.Tyr114His
CA206321
NM_000026.3:c.340T>C