ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022101
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204815
ClinVar RCV Id:
RCV000186711
RCV000415081
RCV001049471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304852.1:p.Arg77Trp
CA313144
NM_001317923.2:c.229C>T