ClinGen Allele Registry
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Canonical Allele Identifier:
PA658667217
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451941
ClinVar RCV Id:
RCV000545359
RCV000726963
RCV003159689
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Arg2277Gln
CA1714130
NM_015120.4:c.6830G>A