ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828764222
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
241001
ClinVar RCV Id:
RCV000731324
RCV001080878
RCV001701794
RCV002338755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Glu1730Gly
CA1713836
NM_001378454.1:c.5189A>G