ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828766250
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1435134
ClinVar RCV Id:
RCV001972115
RCV004042896
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Met3507Val
CA347283356
NM_001378454.1:c.10519A>G