ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828766793
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1424687
ClinVar RCV Id:
RCV001923956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Ser3970Pro
CA50337258
NM_001378454.1:c.11908T>C