ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828766180
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
403921
ClinVar RCV Id:
RCV000465433
RCV001539961
RCV002393076
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Arg3440Gly
CA1714963
NM_001378454.1:c.10318A>G