ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580376606
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2091595
ClinVar RCV Id:
RCV003008010
RCV003308418
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Lys2776Arg
CA347268252
NM_015120.4:c.8327A>G