ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA350144
Gene: ATL1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000206078
RCV000235294
RCV001847933
ClinVar Variation:
220424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121185.1:p.Val253Ile
CA350143
NM_001127713.1:c.757G>A