ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091260
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_000017.1:p.Arg141Trp
CA313144
NM_000026.3:c.421C>T