ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916044525
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204800
ClinVar RCV Id:
RCV000186695
RCV000725224
RCV001489163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350769.1:p.Ala431Thr
CA313118
NM_001363840.3:c.1291G>A