ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247929
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198981
ClinVar RCV Id:
RCV000710485
RCV001087090
RCV003907634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000017.1:p.Met299Val
CA247928
NM_000026.3:c.895A>G