ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313091
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204784
ClinVar RCV Id:
RCV000186675
RCV000766357
RCV001082607
RCV003927731
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000017.1:p.Ala206Ser
CA313090
NM_000026.3:c.616G>T