ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916044524
Gene: ADSL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000435716
RCV000696181
ClinVar Variation:
391918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350769.1:p.Ile427Val
CA10247974
NM_001363840.3:c.1279A>G